Prominent Bone Research Articles

Langerhans cell histiocytosis of the shoulder girdle, pelvis and extremities: a review of radiographic and MRI features in 85 cases.

To describe the radiographic and MRI features of histologically proven Langerhans cell histiocytosis (LCH) of the bone. A retrospective review of the radiographic and MRI features of 85 histologically proven cases of skeletal LCH over a 12-year period. Clinical data recorded included age, gender and location. Radiographic features evaluated included Lodwick grading, cortical/periosteal response and matrix mineralisation. MRI features assessed included lesion size and T1-weighted signal intensity (T1W SI), nature of margin, hypointense rim, enhancement pattern, bone marrow and soft tissue oedema, soft tissue mass, fluid-fluid levels, the penumbra sign and the budding and bulging signs. The study included 85 patients, 54 males and 31 females with mean age of 13years (range 1-76years). The femur was the commonest bone involved (38.8%), followed by the scapula (9.4%), clavicle (8.2%), ilium (8.2%) and ischium (8.2%). The mean maximal lesion size was 40mm (range 16-85mm). The commonest radiographic appearance was of a lytic lesion with no appreciable sclerotic rim, an intact expanded cortex and either absent or laminated periosteal response. MRI demonstrated a hypointense rim (41.5%), the budding (31.7%) and bulging (36.6%) signs, eccentric extra-osseous mass (42.7%), prominent bone marrow (95.3%) and soft tissue oedema (84.1%). Rarer features included haemorrhage (2.4%), the penumbra sign (3.5%) and fluid-fluid levels (2.4%). Thirteen of 25 post-contrast studies showed peripheral/rim enhancement with central necrosis. LCH classically presents as a moderately aggressive lytic bone lesion on radiography, with prominent reactive bone and soft tissue oedema being a characteristic feature on MRI.

Reconstruction of Thumb Polydactily: A Case Report

Background: Polydactyly is the most common hand congenital abnormality found, next after syndactyly. The presence of these extra fingers is not merely duplication but is accompanied by abnormal hypoplastic structures, abnormal joints, tendon anomalies, and anomly of the insertion of ligaments. There are many tehniques proposed to reconstruct polydactyly, from simple excision of bones, ligaments, and tendons to complex reconstructions. We report a case of polydactily, the patient had bone exicision of the duplicates when the patient was four-month-old, but that extra metacarpal with no phalanges resulted in a greater space of finger 1 and 2.
 Patient and Method: A 21-year-old woman complaining of difficulty in grasping because the space between first and second fingers is too far away, and the extra metacarpal bone is protruding that causes snagging and stumbling on other objects. She had a history of surgical removal of polydactyl when she was 4-month-old. The patient has a limitation in hand activities.
 Result: Six months after surgery, the patient was satisfied with the results. The fingers has better mobility, good appearance. No more prominent bone, and neuropathic problems, or other disorders were found.
 Conclusion: Polydactyly is a common congenital hand occurrence. Understanding the anatomy to guide the reconstructive actions is important. It is not only about which digit would be preserved, but we have to concern about what our patient need, improving the quality, patient's hand function, and the aesthetic aspect. 

Flame-sprayed strontium- and magnesium-doped hydroxyapatite on titanium implants for osseointegration enhancement

Strontium (Sr) and magnesium (Mg) have been reported to promote osteoblastic cell proliferation and to accelerate bone formation. However, the biofunctional effect on osseointegration caused by coating dental implants with hydroxyapatite (HA) incorporating both of these elements has not been investigated to date. The aim of this study was to examine bone formation and osseointegration in Sr- and Mg-doped HA-coated titanium implants. In this study, the flame-spraying technique was used to deposit Sr- and Mg-doped HA onto titanium discs and implants. The biocompatibility and alkaline phosphatase (ALP) activity of human embryonic palatal mesenchymal pre-osteoblasts on titanium discs was evaluated. In addition, the expression of the osteogenesis gene and the protein expression of Runt-related transcription factor 2 (RUNX2), osteopontin (OPN), and osteocalcin (OCN) on titanium discs were determined by using real-time polymerase chain reaction assays, Western blot analysis, and enzyme-linked immunosorbent assays. Ultimately, the effects of Sr- and Mg-doped HA on the osseointegration of implants were examined in beagle dogs. The results showed that of the groups tested, the 5Sr5Mg-HA group exhibited the highest biocompatibility, ALP activity, and mRNA and protein expression of RUNX2, OPN, and OCN. Prominent new bone ingrowth with osteoblasts and osteoid tissue was found in the 5Sr5Mg-HA group at 4 weeks and 8 weeks. In addition, the highest bone-to-implant contact ratio was found in the 5Sr5Mg-HA group compared to other groups at 8 weeks in beagle dogs. The results show the potential of using 5Sr5Mg-HA coating on dental implants for enhanced osseointegration. Statement of SignificanceOsseointegration is assessed according to the extent of bone-to-implant contact and is an indication of implant success. This study is the first to report that flame-sprayed Sr- and Mg-doped HA coatings on titanium surfaces enhance osseointegration and new bone apposition in a beagle dog model. Therefore, the use of titanium implants incorporating Sr and Mg might be advantageous for patients with a low bone density.

Analysis of the concept of the Zika Virus congenital syndrome

The scope of this article is to analyze the concept of the Zika Virus Congenital Syndrome. It is a conceptual analysis, based on Walker and Avant. In order to operationalize the search, a systematic review was conducted. The essence of the concept of the Zika Virus Congenital Syndrome is determined by the following attributes: intracranial calcification, ventriculomegaly, and diminished brain volume. For this syndrome to occur, it is necessary to have the following antecedents: transplacental transmission of a mother infected by the bite of the Aedes SSP mosquito or by sexual contact. Accordingly, this entails a set of signs and symptoms that go beyond fetal or postnatal microcephaly, such as, for example, delayed neuropsychomotor development, auditory and visual abnormalities, craniofacial disproportion, overlapping cranial sutures, prominent occipital bone, excess nuchal skin, epilepsy, irritability, dyskinesia, hypertonia, hypotonia, hemiplegia, hemiparesis, spasticity and hyperreflexia. The concept of the Zika Virus Congenital Syndrome is newly acknowledged. The presence of the set of signs and symptoms by the Zika Virus Congenital Syndrome is determined by intracranial calcification and decreased brain volume, and the baby may present microcephaly at birth or subsequently.

Bone-to-Bone and Implant-to-Bone Impingement: A Novel Graphical Representation for Hip Replacement Planning

Bone-to-bone impingement (BTBI) and implant-to-bone impingement (ITBI) risk assessment is generally performed intra-operatively by surgeons, which is entirely subjective and qualitative, and therefore, lead to sub-optimal results and recurrent dislocation in some cases. Therefore, a method was developed for identifying subject-specific BTBI and ITBI, and subsequently, visualising the impingement area on native bone anatomy to highlight where prominent bone should be resected. Activity definitions and subject-specific bone geometries, with planned implants were used as inputs for the method. The ITBI and BTBI boundary and area were automatically identified using ray intersection and region growing algorithm respectively to retain the same ‘conical clearance angle’ obtained to avoid prosthetic impingement (PI). The ITBI and BTBI area was then presented with different colours to highlight the risk of impingement, and importance of resection. A clinical study with five patients after 2 years of THA was performed to validate the method. The results supported the study hypothesis, in that the predicted highest risk area (red coloured zone) was completely/majorly resected during the surgery. Therefore, this method could potentially be used to examine the effect of different pre-operative plans and hip motions on BTBI, ITBI, and PI, and to guide bony resection during THA surgery.

Wheelchair Pressure Ulcer Prevention Using FBG Based Sensing Devices.

In this work, a fiber Bragg grating (FBG) based sensing system for wheelchair pressure ulcer prevention was developed. Six FBGs were strategically positioned in a wheelchair to monitor the more prominent bone areas, namely scapulas (right (SR) and left (SL)), ischiatic zone (right (IR) and left (IL)), and heels (right (HR) and left (HL)). The sensing architecture was tested by a female user during pressure relief exercises, to verify its effectiveness on pressure monitoring. The proposed system proves to be a compact and reliable solution for wheelchair pressure ulcer prevention, making it a suitable alternative to existing conventional electronic sensors, with the advantage of being immune to electromagnetic interferences and usable in humid environments. In addition to the pressure, the breathing rate was also monitored. By combining the proposed sensing architecture with a wheelchair user detection software, it is possible to create alerts for the user to know when a new position should be adopted, in order to relieve the pressure in a specific area, thus avoiding one of the biggest problems for such patients, pressure ulcers.

Functionalization of a clustered TiO2 nanotubular surface with platelet derived growth factor-BB covalent modification enhances osteogenic differentiation of bone marrow mesenchymal stem cells

A multitude of micro- and nano-surface structures have been developed to improve the clinical performance of endosseous titanium (Ti) implants. However, most of these surface structures only simulate the topographic elements on a micro- or nano-scale. In this study, a nano-micro hierarchical TiO2 clustered nanotubular structure was fabricated using anodization, and then functionalized with platelet derived growth factor-BB (PDGF-BB) using PhoA (11-hydroxyundecylphosphonic acid)/CDI (carbonyldiimidazole) chemistry. The resulting 3-dimensional spatial biomimetic structure, named NTPCP, exhibited negligible cytotoxicity and satisfactory bio-activity for host cells, and significantly enhanced the attachment as well as osteogenesis-related functions (early-stage proliferation, extracellular matrix synthesis and mineralization) of human bone marrow mesenchymal stem cells (bMSCs). We observed drastically elevated expression of osteocalcin (OCN), which mirrored prominent bone formation around the NTPCP implants in a rat model. This study establishes a novel strategy to improve the osseointegration of endosseous Ti implants via surface nano-topographic modification and bio-factor covalent functionalization.

PO 18251 - Functional clinical outcome of the conservative treatment of calcaneal fractures in patients with diabetic neuropathy

Introduction: Calcaneal fractures are potentially serious in diabetic patients with foot insensitivity. The consensus is that surgical treatment involves a high risk of complications in these cases, and conservative treatment is the option of choice because it allows monitoring of the onset of pressure ulcers and the degree of hindfoot collapse, which usually occurs as Charcot arthropathy progresses. Objective: To retrospectively evaluate the mid-term functional clinical outcome of conservative treatment of calcaneal fractures in diabetic patients with advanced peripheral neuropathy associated with loss of protective foot sensitivity. Methods: Fifteen patients (16 feet), 12 men and 3 women, whose mean age at the time of the calcaneal fracture was 53 years (ranging from 34 to 70 years) were retrospectively evaluated after conservative treatment with total contact casting. We considered a functional clinical outcome good when the foot was plantigrade and ulcer-free and the patient could wear deep footwear with custom-made insoles for insensitive feet. The outcome was considered acceptable when the patient had residual deformity requiring custom-made polypropylene ankle-foot orthosis (AFO) braces. The outcome was considered poor when extremity amputation was required, when the patient was unable to bear weight on the foot during gait due to hindfoot instability as a result of the fracture, or when the patient showed recurrent ulcer due to bone prominence resulting from fracture malunion. Results: After a mean follow-up time of 40 months (ranging from 12 to 168 months), we assessed a good outcome in 10 feet, an acceptable outcome in 2 feet with braceable residual deformity, and a poor outcome in 4 feet, 3 of which had recurrent ulcers in the foot support area and another that required amputation due to severe infection. Conclusion: Conservative treatment with total contact casting efficiently produced plantigrade, shoeable or braceable feet without pressure ulcers in approximately two-thirds of our small series of patients with diabetic foot insensitivity who suffered calcaneal fracture.

2468 Humeral Fracture as the Only Presenting Symptom of a Metastatic Intra-Hepatic Cholangiocarcinoma: A Rare Cancer With Rare Presentation

INTRODUCTION: Cholangiocarcinoma (CCA) is a malignant tumor which originates from the epithelial cells of bile ducts. Abdominal pain and jaundice are the most common presenting symptoms. It commonly metastasizes through lymphatics to regional lymph nodes, followed by involvement of liver, lungs and peritoneum via blood. Bone metastasis is very rare although it has been reported. We are presenting an unusual case with initial presentation of appendicular bony metastatic disease without any GI symptoms. CASE DESCRIPTION/METHODS: 59-year-old non-smoker male with past medical history of obstructive sleep apnea initially presented to ER with right arm pain while standing from a chair and felt crack in his arm. Physical exam was unremarkable except right mid arm mild swelling and tenderness. Right arm x-ray showed an acute comminuted fracture of proximal humeral shaft with minimal displacement. A CT scan was obtained due to the low energy nature of this injury to rule out pathologic etiology, but this was negative. Blood work up was positive only for normocytic anemia with hemoglobin of 10 g/dl. He was placed in a sling and scheduled to follow-up with orthopedics as outpatient. Four weeks follow up x-ray showed persistent fracture and prominent bone resorption concerning for its pathological nature. Patient was referred to oncologist. Patient remained asymptomatic except right arm pain and some swelling. Extensive work up was initiated. Laboratory investigation showed elevated LFTs with cholestatic pattern. CT CAP with contrast showed significant metastatic abdominal lymphadenopathy, ill-defined mass in the right lobe of the liver and splenomegaly. A bone scan showed uptake in the right mid humerus but no additional findings. Patient underwent CT guided bone biopsy which was consistent with metastatic intrahepatic CCA. Given aggressive growth in short duration and refractory pain, intralesional debulking and metallic end prosthetic segmental reconstruction of the right humeral diaphysis was performed followed by radiation therapy. Oncology recommended to start chemotherapy although prognosis is grim. DISCUSSION: CCA is an aggressive tumor with poor prognosis. The pattern of metastasis is usually through lymphatics and further spread via hematogenous route. Appendicular bone metastasis is very rare phenomena and only few cases reported so far. Physicians should have low threshold to investigate low energy injuries leading to bone fractures, in depth for pathological fractures and possibly underlying malignancy.

LB1062 Gli2-driven basaloid squamous cell carcinomas are associated with prominent bone remodeling

LB1062 Gli2-driven basaloid squamous cell carcinomas are associated with prominent bone remodeling

Establishment of a clinically relevant large animal model to assess the healing of metaphyseal bone.

Despite the high incidence of metaphyseal bone fractures in patients, the mechanisms underlying the healing processes are poorly understood due to the lack of suitable experimental animal models. Hence, the present study was conducted to establish and characterise a clinically relevant large-animal model for metaphyseal bone healing. Six female adult Merino sheep underwent full wedge-shaped osteotomy at the distal left femur metaphysis. The osteotomy was stabilised internally with a customised anatomical locking titanium plate that allowed immediate post-operative full-weight bearing. Bone healing was evaluated at 12 weeks post-fracture relative to the untouched right femur. Histological and quantitative micro-computed tomography results revealed an increased mineralised bone mass with a rich bone microarchitecture. New trabeculae healed by direct intramembranous ossification, without callus and cartilaginous tissue formation. Stiffness at the cortical and trabecular regions was comparable in both groups. Functional morphological analysis of the osteocyte lacunae revealed regularly arranged spherically shaped lacunae along with the canalicular network. Bone surface biochemical analysis using time-of-flight secondary-ion mass spectrometry showed high and homogeneously distributed levels of calcium and collagenous components. Ultrastructure imaging of the new trabeculae revealed a characteristic parallel arrangement of the collagen fibrils, evenly mineralised by the dense mineral substance. The specialised bone cells were also characterised by their unique structural features. Bone remodelling in the fractured femur was evident in the higher expression levels of prominent bone formation and resorption genes. In conclusion, the novel metaphyseal fracture model is beneficial for studying healing and treatment options for the enhancement of metaphyseal bone defects.

PB2204 SERUM YKL‐40 LEVELS ARE ELEVATED IN PRIMARY AND SECONDARY MYELOFIBROSIS AND MAY BE AFFECTING THEIR SURVIVAL

Background:Primary and secondary myelofibrosis (PMF and SMF) are clonal hematopoietic stem cell disorders characterized by myeloproliferation, bone marrow fibrosis, splenomegaly and a strong inflammatory milieu. Glycoprotein YKL–40 emerged as an important biomarker of inflammation, angiogenesis, tissue remodeling, cell proliferation and differentiation. Serum YKL‐40 levels were shown to be higher in PMF patients when compared to healthy controls. However, the clinical significance of this finding is unknown.Aims:The aim of our study was to investigate serum YKL‐40 levels in PMF and SMF patients and to assess its clinical correlations.Methods:Using commercially available ELISA kit (R&D Systems Europe, Abingdon, UK) we analyzed serum YKL‐40 levels in 30 myelofibrosis patients (13 PMF and 17 SMF) and in 25 sex‐ and age–matched healthy controls. Correlations with clinical parameters were made. Optimal cut ‐ off for survival analyses was determined using the ROC curve analysis. The Kruskal‐Wallis analysis of variance, the Mann‐Whitney U test, the Spearman rank correlation, the log rank test and the Cox regression analysis was used. P values <0.050 were considered statistically significant for all analyses.Results:Serum YKL‐40 levels significantly differed between patients and controls (p = 0.006): both PMF (median 685.3 pg/mL, range 220 – 4000) and SMF (median 1797.8 pg/mL, range 58 – 4000) patients had higher serum YKL‐40 levels in comparison to controls (median 560 pg/mL, range 117 – 1137; p<0.050 for both comparisons), whereas there was no statistically significant difference between PMF and SMF patients. Higher serum YKL‐40 levels were statistically significantly associated with presence of constitutional symptoms (median 465.1 pg/mL vs 3694.5 pg/mL for patients with or without constitutional symptoms; p = 0.001), higher Eastern Cooperative Oncology Group (ECOG) performance status (median 685.3 pg/mL vs 3413.2 pg/mL for patients with 0‐1 and 2‐4 performance status, respectively; p = 0.047), higher platelet count (rho 0.390; p = 0.033), larger spleen (rho 0.750; p<0.001), lower serum lactate dehydrogenase (LDH) (rho ‐0.380; p = 0.039) and less prominent bone marrow fibrosis grade (rho ‐0.480; p = 0.007). Patients receiving ruxolitinib had lower serum YKL‐40 levels (median 552.9 pg/mL) than those on hydroxycarbamide therapy (median 4000 pg/mL; p = 0.005). In univariate survival analysis, patients with higher serum YKL‐40 levels (>2311.15 pg/mL) had inferior overall survival in comparison to patients presenting with lower YKL‐40 levels (≤2311.15 pg/mL) (HR 2.91; p = 0.034). This association remained significant in the multivariate Cox regression model after adjusting for sex, age, DIPSS score and ruxolitinib therapy (HR 5.59; p = 0.029).Summary/Conclusion:This is the first study to report clinical associations and strong prognostic properties of increased serum YKL‐40 levels in patients with parimary and secondary myelofibrosis. Serum YKL‐40 levels might represent a state of pronounced inflammation and increased tumor burden in myelofibrosis, as they are significantly associated with presence of constitutional symptoms, poor performance status and parameters indicative of stronger myeloproliferation. Additional studies are needed to more precisely elucidate the cell(s) of YKL–40 origin and to clarify the role of YKL‐40 in promoting disease progression and bone marrow fibrosis. Prognostic properties of YKL‐40 also need to be confirmed in larger prospective cohorts of uniformly treated myelofibrosis patients. Nevertheless, our results identify YKL‐40 as a potential prognostic biomarker in myelofibrosis.

Anatomy of the Cun Position at Wrist and Its Application in Pulse Diagnosis.

Information on anatomy of the Cun position at wrist is lacking; whether the blood vessel taking pulse in Cun is the radial artery or the superficial palmar branch is also clinically controversial. The objective was to investigate the boundaries and contents, and the vascular distribution and their pulse points in Cun. Thirty-two upper extremities of 16 human cadavers were investigated for dissection and observation. The boundaries, contents, and blood vessel distribution in Cun were observed; the location of pulse points in Cun was identified; the length of the superficial palmar branch in wrist pulse (L1), the pulp width of the index finger (L2), and the angle between the radial artery and the superficial palmar branch were measured. The results showed that the Cun was located in the region formed by the bulge of the prominent bone proximal to the palm, the radial flexor tendon, the tubercle of scaphoid, and the abductor longus muscle tendon. In this area, the radial artery could be pulsed part in the medial side of the abductor longus muscle tendon, while the superficial palmar branch lied near the surface and was easy to pulse in the lateral side of the radial flexor tendon and the medial side of the tubercle of scaphoid. The ratio of L1 to L2 was 1.2±0.8, and the angle was 23.3±9.9°. The results suggested that it could not be generalized that the blood vessel taking pulse in Cun was the radial artery or the superficial palmar branch; it might depend on the vascular distribution in Cun, the region of finger positioning, and the patient's pulse condition.

Imaging study of midface growth with bone-borne trans-sutural distraction osteogenesis therapy in growing cleft lip and palate patients

Trans-sutural distraction osteogenesis (TSDO) promotes midface growth in growing cleft lip and palate (CLP) patients with midfacial hypoplasia. The superficial skeletal changes after therapy revealed rotation advancement of the midfacial skeleton associated with differential displacement in each segment, but reports rarely focus on the changes of internal structures, including circummaxillary sutures, the maxillary tuberosity and the maxillary sinus, which may play a crucial role during this process. This study evaluated the computed tomographic (CT) images of 26 growing CLP patients who received bone-borne TSDO therapy. The results revealed that the most prominent new bone formation occurred in the pterygomaxillary suture and pushed the P-point forward. The maxillary first molar exhibited significantly greater advancement compared with the P-point due to the growth of the maxillary tuberosity. The contribution ratio values of the advancement of the maxillary tuberosity and P-point to the maxillary first molar were 26% and 74%, respectively, in UCLP and 25% and 75%, respectively, in BCLP. Furthermore, the maxillary sinus volume was also significantly increased. In conclusion, midface growth with bone-borne TSDO therapy depends on both secondary displacement promoted by sutural bone formation mainly in the pterygomaxillary suture and primary displacement by growth of the maxillary tuberosity and maxillary sinus volume.

Femoroacetabular impingement after the femoral neck fracture healed in a nonanatomical position

Introduction. Femoroacetabular impingement is the result of the pathological conditions in the osseous acetabulum and/or the proximal femur. One of its causes is a non-anatomically healed femoral neck fracture. Case report. A male, aged 51, with a subcapital left femoral neck fracture was treated conservatively. The fracture healed 9 months later and although the patient was walking on crutches he suffered from pain in the left groin. The X-ray images showed the valgus and the retroposition of the left femoral head. The patient was operated on and intraoperatively the thickness and a bone prominence in the anterosuperior femoral neck area in the line of the previous fracture were found, which was pressing and spreading beneath the acetabular labrum, thus squeezing the acetabular cartilage. The labrum lesion which was found was the result of the mechanical pressure of the existing femoral neck deformity during the hip movements. Irretrievably damaged part of the labrum was resected and the anterosuperior femoral headneck osteochondroplasty was done. One year after the surgery, the patient had no pain, he walked without limping, the impingement test was negative, the radiological parameters were adjusted and there were no signs of the avascular necrosis of the femoral head. Conclusion. The femoral neck fracture should be treated adequately with the full anatomical position and the proper internal fixation. If the deformity occurs as the result of a treatment, it should be removed as soon as possible to prevent the osteoarthritis of the hip.

Imaging findings of metallic implants associated lymphoma

Purpose Chronic inflammatory condition such as metallic implants insertion state has relevance to develop diffuse large B-cell lymphoma (DLBCL). The purpose of this study is to introduce the imaging features of the metallic implants associated lymphoma. Materials and Methods In 2016 September, a 58 years-old male underwent high tibial osteotomy at right leg after took a knee magnetic resonance image (MRI). After 15 months later, he underwent hardware removal operation. 2 weeks later after operation, he complained right leg pain and swelling. He was hospitalized and radiologic studies including ultrasound (US) and MRI were performed. Soft tissue mass in right popliteal fossa was seen and US-guided biopsy was done to confirm the mass. Results MRI which was taken after hardware removal, showed iso to slightly low signal intensity on T1 weighted image(WI), high signal intensity on T2WI with diffuse marrow involvement and heterogeneous patchy enhancement in right proximal tibia. Also extensive extraosseous soft tissue component was seen, with relatively preserved trabecular pattern in proximal tibia. This intraosseous and extraosseous lesions were not seen in previous MRI which taken before high tibial osteotomy. On US image, it was showed heterogeneous hypoechoic and hypervascular lesion in popliteal fossa of left lower leg. US guided biopsy was done on extraosseous soft tissue mass in left popliteal fossa. It was histologically confirmed as DLBCL. Conclusion Hypoechoic and hypervascular disproportionally large extraosseous soft tissue mass without prominent bone destruction is preferential finding of bone lymphoma. Lymphoma should be considered above all, when these findings were seen in patient who has metallic implant.

Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation

BackgroundArrest of fetal brain development and the fetal brain disruption sequence describe a severe phenotype involving microcephaly, occipital bone prominence, and scalp rugae. Congenital disorders of glycosylation are a heterogeneous group of inherited disorders involved in glycoprotein and glycolipid biosynthesis, which can cause microcephaly and severe neurodevelopmental disability. MethodsWe report an example of fetal microcephaly diagnosed at 36 weeks' gestation with a history of normal fetal biometry at 20 weeks' gestation. Postnatal genetic testing was performed. ResultsFetal magnetic resonance imaging at 36 weeks' gestational age showed severe cortical thinning with a simplified gyral pattern for gestational age, ventriculomegaly, and agenesis of the corpus callosum. The fetal skull had a posterior shelf at the level of the lambdoid suture, characteristic of fetal brain disruption sequence. Postnatal brain magnetic resonance imaging found no brain growth during the interval from the fetal to postnatal study. The infant was found to have biallelic pathologic mutations in ALG11. ConclusionsArrest of fetal brain development, with image findings consistent with fetal brain disruption sequence, is a previously unreported phenotype of congenital microcephaly in ALG11-congenital disorder of glycosylation. ALG11-congenital disorder of glycosylation should be considered in the differential diagnosis of this rare form of congenital microcephaly.

Oral ulceration with bone sequestration: Retrospective study of eight cases and literature review.

Oral ulceration with bone sequestration (OUBS) describes a site-specific intraoral ulcer that covers exposed, non-vital bone in patients lacking any etiological factor known to induce osteonecrosis. We aimed to conduct a retrospective study of eight new cases of OUBS and review the literature. This is a retrospective study of OUBS cases, diagnosed and managed during 2007-2017. Inclusion criteria were the presence of oral ulcer with exposed non-vital bone at sites of bone prominence and the absence of any factor known to cause osteonecrosis. The English literature was reviewed on original OUBS cases. Eight patients (5 males and 3 females, aged 27-75years) were diagnosed with OUBS during years 2007-2017. Four cases involved the mandibular mylohyoid ridge, one a mandibular anterior exostosis and three the maxillary buccal/palatal exostoses. Exposed bone was removed under local anesthesia, resulting in complete healing in all cases. The literature review yielded 32 OUBS cases in the mandible. Oral ulceration with bone sequestration is a distinct, probably under-reported rather than rare clinical entity that should be regarded the provisional diagnosis in case of an oral ulcer covering exposed, non-vital bone at sites of bone prominence in patients lacking any etiological factor known to induce osteonecrosis.

Pathological investigation of Marek’s disease in a pullet farm of Bangladesh and detection of Marek’s disease virus by pcr

Marek’s disease (MD) is a lymph proliferative disease of chickens, characterized by progressive emaciation, morbidity and mortality. The causative agent is a cell associated oncogenic alpha-herpes virus. This study investigated an outbreak of MD in a pullet farm (N=2200) of Ramu Upazilla, Cox’s bazaar during May 2016 vaccinated against MD. The infectivity was reported on day 45 of age. Birds (N=10) submitted to diagnose disease at necropsy in the Department of Pathology, Bangladesh Agricultural University showed prominent keel bone, asymmetric progressive paralysis of one or both of the legs and wings. At necropsy, the skeletal muscle appeared thinner and there was enlargement of liver, spleen, kidney and sciatic nerve. Impression smears prepared from the liver showed huge infiltration of lymphocytes. Sections of heart, lungs, liver, kidney, nerve, skin and spleen were stained with hematoxylin and eosin showed wide spread infiltrations and accumulation of lymphocytes. Lymphocytic infiltration was seen in the skin, nerves and all visceral organs and showed combined infectivity due to visceral and classical forms. The etiology of MD was confirmed by using polymerase chain reaction (PCR) targeting fragment of Meq gene of very virulent plus or very virulent MDV1. Results of PCR showed amplification of 317bp fragment of Meq gene suggestive for infectivity due to MDV1GA (Md/5) strain. It requires isolating viruses in culture to test further for its virulence and pathotype in vivo. Sequencing and phylogenetic analysis of Meq gene may unveil the pathotype of the virus involved.SAARC J. Agri., 16(1): 181-192 (2018)

A Case of Multiple Myeloma Associated with Extramedullary Plasmacytoma of the Gallbladder Manifesting as Acute Cholecystitis

Multiple myeloma (MM) is a common hematological malignancy that represents 1% of all cancers. MM is distinguished from other plasma cell disorders by prominent bone marrow involvement and systemic organ damage. Extramedullary plasmacytomas of the gall bladder (GB) or biliary ducts, whether solitary or in association with MM, are very rare. We report a case of a 66-year-old female with a history of refractory MM who presented with right upper quadrant abdominal pain. Her laboratory evaluation revealed an abnormal liver panel and lactic acidosis. Abdominal ultrasonography was consistent with acute cholecystitis with no evidence of biliary obstruction or abnormal liver parenchyma. An open cholecystectomy with liver biopsy was performed. The histological evaluation revealed involvement of the GB submucosa and serosa, as well as the liver parenchyma by abnormal plasma cells with lambda light chain restriction. Congo red stain for the GB sample was positive. The patient declined further treatment for MM and was discharged home with comfort measures.