Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager.

Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.

The Effects of Subjective Cognitive Decline on APOE Genotype Disclosure in the Butler Hospital Alzheimer's Prevention Registry.

BACKGROUND: Subjective cognitive decline (SCD) and APOE genotyping are both instrumental in identifying high-risk individuals for Alzheimer's disease (AD) prevention trials. OBJECTIVE: This study examined the relationship between SCD and the impact of APOE disclosure on the psychological and behavioral health of cognitively unimpaired individuals. Design/Setting/Participant: We recruited 189 trial volunteers (mean age 66, 65% female, 96% White), from the Butler Hospital Alzheimer's Prevention Registry. Participants completed screening for cognitive impairment and a psychological readiness assessment before learning their APOE genotype, and were followed for 6 months after. RESULTS: SCD had a modest, temporary impact on mood and event-related distress following APOE disclosure, specifically on those who were ε4 carriers. The presence of SCD (SCD+) did not compound the AD genetic test-specific distress related to learning that one was an ε4 carrier. SCD also did not moderate changes in perceived AD risk, with all non-carriers showing a more rapid decrease in perceived risk over time than carriers. Counterintuitively, those without SCD (SCD-) reported taking more steps in future-directives than the SCD+ group at baseline and after disclosure, potentially suggesting that those with SCD may have subtle executive declines that limit future-oriented actions or fear-avoidance behaviors. Further, the SCD- group was more accurate in recalling their APOE status and the recall accuracy correlated with their broad knowledge about APOE as a risk gene for AD. CONCLUSION: Our findings support the safety and tolerability of APOE disclosure in research volunteers regardless of their SCD statuses, but further studies are warranted to include diverse individuals and those pursuing testing through direct-to-consumer services outside of traditional research settings.

Identifying the Etiological Factors Involved in the Occurrence of Non-Carious Lesions.

The study group comprised a total of 21 subjects (10 women and 11 men) from the urban area aged 20 to 72 who presented themselves to treatment at the Dental Office during July-December 2018. The purpose of the study was to identify the etiological factors responsible for the occurrence of non-carious lesions in the patients involved in the study. The study group of 21 patients (10 women and 11 men) from the urban area, aged 20 to 72 years, were clinically examined and dental impressions were obtained in order to ascertain the study patterns. Subjects diagnosed with non-carious lesions filled a questionnaire based on which the risk factors that led to these changes were identified. The study models were used to assess the degree of cervical tooth damage, according to SMITH-KNIGHT index. The main etiological factors found to be responsible for the occurrence of non-carious lesions in the studied group were the excessive consumption of acidic and carbonated beverages (71.42%), the presence of gastro-esophageal reflux disease (14.28%), incorrect technique of brushing (28.57%), vicious habits-nail biting (14.28%), daily consumption of sunflower seeds (9.52%), use of toothpicks as auxiliary hygiene (19.04%) and night teeth grinding (4,76%).

The Association Between Helicobacter Pylori Infection and Liver and Biliary Tract Disorders.

Helicobacter Pylori (HP) persistently colonizes the stomach in about 50% of the globe population and it is the main risk factor for peptic ulcer, as well as for gastric adenocarcinoma and MALT gastric lymphoma. The treatment for HP revolutionized the management of the peptic ulcer disease, providing permanent healing in many cases. Preventing colonization of HP would be the primary prevention of gastric malignancy and peptic ulceration. At the same time, the presence of HP provides protection for some diseases (gastroesophageal reflux disease and its complications, esophageal adenocarcinoma, asthma), the eradication of the microorganism having negative repercussions. HP has an increasingly recognized role in other extragastric pathologies. Thus, immune thrombocytopenic purpura has improved after treating HP infection. There are controversial association with ischemic heart disease and cerebrovascular disease. The current article highlights an important association between HP infection and a range of hepatobiliary disorders such as biliary lithiasis (where even an etiological role is involved), cholestatic syndromes (primary sclerosing cholangitis and primary biliary cholangitis), chronic hepatitis B virus, chronic hepatitis C virus, with an evolution towards cirrhosis and hepatocellular carcinoma.

CLASIC VERSUS NOVEL IN REDUCTION OF ACUTE ANTERIOR DISLOCATION OF THE SHOULDER: A COMPARISON OF FOUR REDUCTION TECHNIQUES.

AIM: The purpose of our study is to compare four different techniques for reduction shoulder dislocation in term of efficacy, duration until reduction and pain felt by patient during the procedure. MATERIAL AND METHODS: During 2015 year, we conducted a study on 50 chronological patients with anterior shoulder dislocation. After exclusion of four patients, the remaining 46 (74% males, mean age 44.6 +/- 20.03 years, range 18 to 89) were randomly assigned in four groups and reduced by Cunningham (C), Kocher (K), Mothes (M) and Hipocrat (H) techniques. All the patients were sedated using Midazolam (2 mg) and Fentanyl (1 microg/kgbw) except patients who underwent Cunningham technique. RESULTS: The success rate was 76.9% in C group, 98.4% in K group, 90.2% in M group and 87.96% in H group (p>0.05). The level of pain in C group was similar to the other groups in the absence of pain medication (p<0.05). CONCLUSIONS: Cunningham technique is a simple, single person technique, drug free, less painful and safer, comparable with other "classical" methods.

MANAGEMENT OF BILATERAL FEMORAL NECK FRACTURE IN A NONAGENARIAN PATIENT--CASE REPORT.

Simultaneous bilateral femoral neck fracture is rare injury. Cases with this type of fracture have been reported in the literature since the 1950s, following the introduction of electroconvulsive therapy which generates violent hip muscle contractions. In young patients' simultaneous bilateral femoral neck fracture results from high energy trauma (car accident or fall from height) in a normal bone. Pathological changes in bone structure occurring in chronic kidney disease, vitamin D deficiency, osteomalacia, osteoporosis, metabolic imbalances and administration of corticosteroids explain the occurrence of this particular type of fracture following low-energy trauma. We present the case of a 90-year-old female patient who suffered a simple fall from her own height resulting in a Garden IV bilateral femoral neck fracture. Our therapeutic option in this patient was bilateral uncemented bipolar hemiarthroplasty in a single session using a single tray of sterile surgical instruments and two sterile drapes. Postoperative outcome was very good, allowing the initiation of functional recovery on the first postoperative day. Uncemented hemiarthroplasty proved to be a good choice in such a patient in the associated diseases may trigger the risk of cardiovascular disturbances specific to bone cement implantation syndrome.

Proximalize osteotomy of tibial tuberosity (POTT) as a treatment for stiffness secondary to patella baja in total knee arthroplasty (TKA).

INTRODUCTION: Stiffness after a total knee arthroplasty (TKA) is one of the most common post-operative complications. The purpose of this study is the evaluation of the effectiveness of TT proximalization osteotomy of improving a lack of flexion and secondary pain in patella baja (infera) post-TKA. MATERIALS AND METHODS: Between April 2007 and July 2012, TT proximalization osteotomy was performed on 21 patients. The average preoperative flexion was 70° (in a range of 60-80). Clinical pre- and post-operative evaluations were performed with Knee Society Score, Western Ontario and McMaster Universities Arthritis Index scales and a satisfaction survey. Modified Blackburn-Peel index and Portner angle were used to evaluate patellar height. RESULTS: After an average follow-up of 35 months (range 18-48), an average flexion of 100° (range 90-100) and an overall satisfaction were obtained. Clinical scores improved significantly. The Blackburn-Peel index and Portner angle improved significantly from 0.3 (range 0.1-0.5) to 0.4 (0.3-0.5) and from 9 (3-15) to 12 (9-18), respectively. Three patients showed no signs of osteotomy consolidation. However, this was not linked to a lack of extension or an increase in local pain. CONCLUSION: TT proximalization osteotomy provides satisfactory results in improving a lack of flexion and pain in patella baja post-TKR.

TRAUMATIC SCAPHOLUNATE DISSOCIATION--CASE REPORT.

Perilunate injuries occur after an impact trauma to the wrist. The recognition of these lesions and immediate treatment are the two essential conditions to ensure the best possible outcome. The first therapeutic step is the restoration of anatomical joint relationships of the carpus followed by percutaneous pinning or internal fixation required for maintaining the congruence this segment. Despite correct diagnosis and approach in these cases the prognosis is often encumbered by decreased range of motion, loss of grip strength and finally the onset of osteoarthritis. Scapholunate dissociation is the most frequent pattern of carpal instability. We report the case of a 53-year-old woman diagnosed with scapholunate dissociation resulting from an injury caused by fall from the same level on the outstretched right hand (dominant hand). Surgery was performed 48 hours post-injury and consisted in external reduction followed after the restoration of the anatomical joint relationships in the right wrist by percutaneous pinning. Postoperatively the wrist was immobilized in brachipalmar cast for 8 weeks and arthrosynthesis pins were removed. The patient was reassessed at 6 months postoperatively by clinical and radiological evaluations and the functional outcome was good.

The benefits of using Sentinel WebDashboard in medicine: IT solution for monitoring and treatment of patient with liver cirrhosis.

The global assessment of the evolution of a disease in a certain geographical area or a specific domain is useful in the medical research for the preparation of practice guidelines/protocols used in the hospitals. Cirrhosis is one of the most common disorders seen today, occupying a significant place in the gastrointestinal pathology. The disease is the final stage of various affections in terms of etiology and morphology. The most frequent subjects treated on this topic are those related to the etiopathology and early diagnosis. Given the current interest in this matter and considering that UGS (upper gastrointestinal bleeding) in liver cirrhosis is a common complication and potentially fatal, the medical research found some very useful conducting retrospective studies in this area. The purpose of our study was to create an IT system implemented with Sentinel WebDashboard, which could increase the medical performances in diagnosis, monitoring and treatment of a disease. We tested our solution on a medical data set containing information about the patients with liver cirrhosis. The solution facilitates the access of the physicians to the databases containing complete information about the patients, offers the possibility to monitor the evaluation of their health and also aids physicians in optimizing the medical procedures and improve the diagnostic methods. It also offers the advantages of a web application: it does not require the installation on the client side, being accessible anytime, anywhere via a web browser, laptop, Smartphone or tablet.

Low complications after minimally invasive fixation of calcaneus fracture.

Calcaneus fractures are still a delicate point regarding the indication for osteosynthesis. Knowing the skin's poor vascularisation of the back foot, the purpose of this study is to present the benefits of proper surgical options between an open and invasive osteosynthesis with anatomical reduction and internal fixation or minimally invasive approach preserving the quality of the soft parts. 66 interventions that targeted reduction and internal fixation of calcaneus fractures were performed between 2009-2012, in the Orthopaedic and Traumatology Department of Bucharest Emergency University Hospital. 29 cases underwent open reduction and internal fixation with plates and screws or Kirschner wires, and 37 cases underwent a minimally invasive reduction and Essex Lopresti osteosynthesis technique. No patient who underwent a minimally invasive reduction had skin lesions, but showed pain due to osteoarthritis lesions that appeared in the subtalar joint. 4 of them, who underwent open reduction and internal fixation had postoperative wound infections and skin necrosis.

[Use of trabecular metal in total knee arthroplasty in severely and morbidly obese patients (BMI > 35 kg/m2)]. / Utilización del metal trabecular en artroplastía total de rodilla en pacientes obesos graves y mórbidos (IMC >35 kg/m2).

The use of trabecular metal in the tibial surface may increase prosthetic survival in the population with severe or morbid obesity (BMI > 35 kg/m2). A prospective, descriptive study was conducted of patients with a BMI > 35 kg/m2 who underwent total knee replacement with a prosthesis with trabecular metal. Minimal follow-up was two years. The statistical analysis was done with Student's t test; the Knee Society Score and the Western Ontario and McMaster Universities Osteoarthritis Index were applied preoperatively and postoperatively. The chi2 test was applied to the BMI values relating them with more or less radiolucent images. The total number of patients was 39, but three were excluded for not having the radiographic follow-up. Mean follow-up was 34 months (25-43); 35 were females, mean age was 69.4 years (57-81), mean BMI was 39.43 kg/m2 (35-55). All patients had grades 3 and 4 tricompartmental arthrosis. The KSS (R and F) and WOMAC scales, with a 95% confidence interval, showed a statistically significant improvement in the assessment of preoperative results and at the end of the followup. Only a few studies measure long-term implant survival. Most authors define survival as the absence of the need to revise prosthetic implants. The end point of survival is the removal or exchange of prosthetic components. Trabecular metal (TM) is currently used in orthopedic surgery and its clinical applications are increasing more and more with good results.

La medición individual de la presión de oclusión arterial permitereducir la presión de inflado del torniquete de isquemia en la artroscopia de rodilla ambulatoria / Individual measurement of the arterial occlusion pressure reduces the inflation pressure of the ischemia tourniquet needed for knee arthroscopy

Introducción: en la cirugía artroscópica de rodilla la presión del torniquete de isquemia suele fijarse arbitrariamente entre 250 y 350 mm Hg. La medición de la presión de oclusión arterial (POA) permite ajustar individualmente la presión de inflado al mínimo necesario para obtener condiciones quirúrgicas similares. Medimos la POA mediante Eco-Doppler para determinar la presión de inflado del torniquete y evaluamos la calidad del campo quirúrgico obtenido en pacientes ambulatorios programados para artroscopia de rodilla bajo anestesia general. Material y métodos: se incluyeron 50 pacientes intervenidos de meniscectomía(40) y ligamentoplastia (10). Se midió la POA en la arteria tibia posterior incrementando progresivamente la presión de inflado hasta la desaparición de la onda Doppler. La presión de inflado del torniquete se ajustó a 30 mmHg por encima de la presión de oclusión obtenida para cubrirlas variaciones intraoperatorias de presión arterial. El cirujano, ajeno a este (..) (AU)

Background: Common tourniquet inflation pressures used for knee arthroscopy vary between 250 y 350 mm Hg. Individual measurement of the arterial occlusion pressure (AOP) allows for adjusting the inflation pressure to the minimum necessary to obtain a similar operation conditions. We measured the AOP by Doppler ultrasound to determine the tourniquet inflation pressure and evaluated the quality of the surgical field obtained in outpatients undergoing knee arthroscopy under general anesthesia. Methods: Fifty patients undergoing meniscectomy (40) or cruciate ligament repair (10) were included. The AOP was measured in the posterior tibialartery by increasing the tourniquet pressure until the Doppler ultrasound wave completely disappeared. To account for intraoperative blood pressure (..) (AU)

Resurfacing total hip replacement--a therapeutical approach in postmenopausal women with osteoporosis and hip arthrosis.

AIM: Patients with incipient hip arthrosis may benefit from a relatively new therapeutical approach using resurfacing total hip replacement, but in those with associated osteoporosis, this type of surgical intervention is contraindicated, given the poor quality of osteoporotic bones. We assessed the efficacy of the antiosteoporotic pharmacological therapy to improve bone quality and bone strength in postmenopausal women diagnosed with hip arthrosis and osteoporosis thus facilitating the hip surgical intervention. METHODS: We evaluated 20 postmenopausal women aged between 53-60 years diagnosed with osteoporosis according to the WHO criteria, by using dual-energy X-ray absorptiometry (DXA) for bone mineral density measurements. All these patients had low hip T score (osteopenia/ osteoporosis) and also incipient hip arthrosis. The surgical approach was delayed for 12 months and all the patients received bisphosphonate therapy with calcium and vitamin D supplements. DXA scans were performed after 12 months of therapy in all the patients. RESULTS: A surgical intervention with resurfacing total hip replacement was performed in 12 of the 16 patients presenting with increasing BMD, 4 of them showing elements of rapidly advancing hip arthrosis to a stage that made this type of intervention impossible. We chose not to use this technique in the group with stable BMD (4 patients). All 12 women surgically treated had a favorable post-operative outcome without experiencing a femoral neck fracture during the surgical intervention or during the twelve-month follow-up. All 20 patients continued to receive bisphosphonate therapy. CONCLUSION: In postmenopausal women with osteoporosis and associated hip arthrosis, improving bone mass and bone quality with bisphosphonate therapy is necessary and important in order to allow hip arthroplasty, by using the technique of resurfacing, avoiding the risk of intra-operative fractures and with a favorable post-operative long-term outcome.

Secondary patellar resurfacing in the treatment of patellofemoral pain after total knee arthroplasty.

PURPOSE: This paper reports a prospective review of patients who, between 2004 and 2007, underwent secondary patellar resurfacing (SPR) due to anterior knee pain after a primary total knee arthroplasty (TKA). The aim was to evaluate the clinical outcomes obtained with the SPR and to compare them with radiological findings. METHODS: A total of twenty-seven consecutive patients met the inclusion criteria. There were twenty-three (85%) women and four (15%) men with a median age of 70 years. The patients were evaluated before and after the surgery with the same functional scores and radiological parameters. Bone scintigraphy was also used in the assessment, and a CT-scan was performed in order to evaluate the femoral component rotation. The median time between TKA and SPR was 18 months. RESULTS: With a median follow-up of 23 months, seventeen patients (63%) reported a clear subjective improvement after SPR, and patellofemoral scores (primary outcome measure), KSS and WOMAC (secondary outcome measures) showed a statistically significant improvement following the procedure. There were no significant changes after SPR in the Insall-Salvati ratio, the lateral patellar displacement or the lateral patellar tilt. The mean time between TKA and SPR had no statistically significant effect on outcome. The bone scintigraphy revealed increased patellar uptake in seven cases, but this was not related to subsequent improvement after SPR. Rotational computed tomography showed a median internal rotation of the femoral component of 1º. The complications observed were a patellar component loosening and an acute post-infection. CONCLUSION: No clinical or radiological parameter was found to be related to the final outcome after SPR. There was a discrepancy between functional scale scores and the patient's subjective satisfaction.

Added soft tissue contrast using signal attenuation and the fractal dimension for optical coherence tomography images of porcine arterial tissue.

Optical coherence tomography (OCT) images of left-descending coronary tissues harvested from three porcine specimens were acquired with a home-build swept-source OCT setup. Despite the fact that OCT is capable of acquiring high resolution circumferential images of vessels, many distinct histological features of a vessel have comparable optical properties leading to poor contrast in OCT images. Two classification methods were tested in this report for the purpose of enhancing contrast between soft-tissue components of porcine coronary vessels. One method involved analyzing the attenuation of the OCT signal as a function of light penetration into the tissue. We demonstrated that by analyzing the signal attenuation in this manner we were able to differentiate two media sub-layers with different orientations of the smooth muscle cells. The other classification method used in our study was fractal analysis. Fractal analysis was implemented in a box-counting (fractal dimension) image-processing code and was used as a tool to differentiate and quantify variations in tissue texture at various locations in the OCT images. The calculated average fractal dimensions had different values in distinct regions of interest (ROI) within the imaged coronary samples. When compared to the results obtained by using the attenuation of the OCT signal, the method of fractal analysis demonstrated better classification potential for distinguishing amongst the tissue ROI.

Acroplate--a modern solution for the treatment of acromioclavicular joint dislocation.

Two main ways to fix the reduction were imposed in surgical treatment of the acromioclavicular joint dislocations: fixation with trans acromioclavicular pin (Phemister method) and fixation with plate and screws type acroplate. The purpose of the present paper work is to compare immediate and later postoperative results between the two types of surgical interventions. During 2005-2007, 37 surgical reductions and fixation of acromioclavicular joint dislocations were performed in the Orthopedic-Traumatology Clinic of SUUB. In 17 cases a fixation with screws and plates type acroplate has been performed and in 20 cases with pins using the Phemister method. Sex ratio: 31 men and 8 women. Patients were aged between 17 and 56 years old. Follow up at 6 weeks, 3, 6, 12 and 18 post-operatory months. Osteosintesis material removing was done postoperatively, at 4 weeks in case of acroplate's and at 6 weeks in case of the pins. All patients treated of fixation with plate and screws acroplate type had a favorable evolution/development, starting with the shoulder joint mobilization at 24 hours postoperatively, with a complete recovery 4 weeks after the operation, at the same time with the ablation, and without immediate other late complications. As far as the patients treated by using the Phemister method are concerned, they were applied an immobilization, postoperatively. Desault bandage or the scarf for a period between 1 and 3 weeks, beginning with the shoulder joint mobilization later on and a full recovery after a minimum of 6 weeks. However, 3 of the cases showed a migration of one or both pins. Following the study, a more rapid recovery resulted, complete, and without complications of mobility in the shoulder joint, when using plate type acroplate vs pin.

Long-standing pain in a 25-year-old patient with a non-diagnosed cervical osteoblastoma: a case report.

Benign osteoblastomas are infrequent tumors, representing less than 1% of all bone tumors. The spinal location accounts for 40-50% of all osteoblastomas from which only 20% are located in the cervical spine. The majority of the spinal osteoblastomas arise from the posterior elements: pedicles, laminas, transverse or spinous processes. We present a case report of a young male that due to the lack of specific symptoms was diagnosed of a cervical osteoblastoma 14 months after the first symptoms. The tumor was located in the right C7 pedicle. We then operated, resected the tumor and a posterior C6-T1 bilateral instrumentation was performed to stabilize the spine. Nowadays, this delay in diagnosis may be avoided by the routine use of MRI or CT for unspecific cervical symptoms. The treatment of this lesion is the complete surgical resection based on a correct preoperative planning with CT and MRI in order to define precisely the location, size and extension of the tumor. Currently, percutaneous or minimally invasive surgery is not commonly used in the treatment of this lesion.

Fractura de la coracoides, fractura del troquiter y lesión de Hill-Sachs después de un primer episodio de luxación anterior de hombro / Fracture of the coracoid process, the great tuberosity and Hills- Sachs lesion after first time anterior shoulder dislocation

La asociación de fractura de la coracoides, fractura del troquíter y lesión de Hill-Sachs en una luxación anterior de hombro es poco frecuente. Presentamos un caso, que después de un ataque epiléptico, presentaba esta lesión. Tratamos la lesión de manera conservadora, después de reducción cerrada bajo anestesia general. Realizar un diagnostico preciso con unas radiografías rutinarias de urgencias puede ser difícil, así la TAC va a ser de ayuda. Esta rara asociación de fracturas tiene que ser tratada primeramente con una reducción cerrada. Aunque la reducción cerrada de la luxación sea posible, se debe evaluar cada lesión por separado, por una posible indicación quirúrgica de la misma

Fracture of the coracoid's process, the great tuberosity, and Hill-Sachs lesion after first-time anterior shoulder dislocation is a rare association. We present a case with this lesion after epileptic convulsion. We used conservative treatment after closed reduction under general anaesthesia. To make the diagnosis is difficult with the usual radiographs in the emergency department, so CT scan can be helpful. This rare association of injuries are to be treated by primary closed reduction. Even if closed reduction has been possible, surgical options for each separate injury can be considered

Usefulness of teicoplanin for preventing methicillin-resistant Staphylococcus aureus infections in orthopedic surgery.

In order to gather more data on the use of teicoplanin for reducing MRSA infections in high-risk populations, the present study was conducted. At a hospital in Barcelona, Spain, there was a high prevalence of MRSA infections among patients who underwent surgery for femoral neck fracture during the first 5 months of 2002 (period A) when cefuroxime was the antibiotic prophylaxis. During the following 12 months (period B) 600 mg of teicoplanin was added to cefuroxime. The rates of overall and MRSA infection during period A were 5.07 and 2.73%, respectively. Pulsed-field gel electrophoresis demonstrated there was no clonal relationship among MRSA strains. No nasal carriers of MRSA were detected among health workers. During period B the rates of overall and MRSA infection were 2.36 and 0.19%, respectively. Both rates were statistically significantly lower than those in period A (p<0.05). These results suggest teicoplanin may be useful in patients undergoing orthopedic surgery when the prevalence of MRSA is high.