Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).

Fructose-1, 6-bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life-threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Accurate diagnosis can be achieved either by enzyme assay or gene studies. Enzyme assay requires a liver biopsy and is tedious, invasive, expensive, and not easily available. Therefore, genetic testing is the most appropriate method to confirm the diagnosis. Molecular studies were performed on 18 suspected cases presenting with episodic symptoms. Seven different pathogenic variants were identified. Two common variants were noted in two subpopulations from the Indian subcontinent; p.Glu281Lys (E281K) occurred most frequently (in 10 patients) followed by p.Arg158Trp (R158W, in 4 patients). Molecular analysis confirmed the diagnosis and helped in managing these patients by providing appropriate genetic counseling. In conclusion, genetic studies identified two common variants in the Indian subcontinent, thus simplifying the diagnostic algorithm in this treatable disorder.

Subject Profile Assessment of Cases Recommended with Nutritional Supplement Containing Red Yeast Rice, Grape Seed Extract and Black Pepper Extract: A Prospective, Multicentric, Post-marketing Study.

OBJECTIVE: To assess the profile and general health indices in subjects prescribed with a nutritional supplement containing red yeast rice, grape seed extract and black pepper extract (NS-YGP; PreLipid®; Abbott Healthcare Pvt. Ltd.) in routine clinical setting in India. METHODS: In this prospective, postmarketing observational study, consecutive subjects recommended NS-YG at their outpatient department were recruited from 39 sites in India. The primary outcome of interest was to identify the profiles of subjects recommended with NS-YGP. The secondary outcome measures were to evaluate the changes in lipid profile from baseline to 3 and 6 months and assess the safety of NS-YGP. RESULTS: A total of 573 subjects were enrolled, of which 527 (92%) completed the study. Majority of subjects receiving NS-YGP were males (76.6%), non-obese (85.9%) and had borderline dyslipidemia (87.3%) at the time of enrolment. There was a significant improvement in lipid profile over a period of 6 months; with a significant decline in the levels of total cholesterol, low-density lipoprotein cholesterol, non-high-density lipoprotein cholesterol (non-HDL-C) and triglycerides from baseline to month 3 and 6 (p < 0.0001 for each parameters). Furthermore, HDL-C level significantly improved from baseline till month 6 (p = 0.0007). There was a significant change in levels of other laboratory parameters, including creatine phosphokinase, serum creatinine, hemoglobin and white blood cells from baseline to 3 and 6 months (p< 0.05). No adverse events were reported in the study. CONCLUSION: Most of the subjects prescribed with NS-YG had borderline elevated lipid levels. NS-YGP significantly improved lipid profile and was safe, well-tolerated and can be recommended in the primordial prevention of borderline dyslipidemia.

Comparison of efficacy and tolerance of short-duration open-ended ureteral catheter drainage and tamsulosin administration to indwelling double J stents following ureteroscopic removal of stones.

OBJECTIVES: To evaluate the efficacy of short-duration, open-ended ureteral catheter drainage as a replacement to indwelling stent, and to study the effect of tamsulosin on stent-induced pain and storage symptoms following uncomplicated ureteroscopic removal of stones. DESIGN: Prospective randomised study. SETTING: School of Medical Sciences and Research, Sharda University, Greater Noida, India. PATIENTS: Patients who underwent ureteroscopic removal of stones for lower ureteral stones between November 2011 and January 2014 were randomly assigned into three groups. Patients in group 1 (n=33) were stented with 5-French double J stent for 2 weeks. Patients in group 2 (n=35) were administered tablet tamsulosin 0.4 mg once daily for 2 weeks in addition to stenting, and those in group 3 (n=31) underwent 5-French open-ended ureteral catheter drainage for 48 hours. MAIN OUTCOME MEASURES: All patients were evaluated for flank pain using visual analogue scale scores at days 1, 2, 7, and 14, and for storage (irritative) bladder symptoms using International Prostate Symptom Score on days 7 and 14, and for quality-of-life score (using International Prostate Symptom Score) on day 14. RESULTS: Of the 99 patients, visual analogue scale scores were significantly lower for groups 2 and 3 (P<0.0001). The International Prostate Symptom Scores for all parameters were lower in patients from groups 2 and 3 compared with group 1 both on days 7 and 14 (P<0.0001). Analgesic requirements were similar in all three groups. CONCLUSION: Open-ended ureteral catheter drainage is equally effective and better tolerated than routine stenting following uncomplicated ureteroscopic removal of stones. Tamsulosin reduces storage symptoms and improves quality of life after ureteral stenting.

Utility of the Awake Video Laryngoscopy Assisted Fibreoptic Intubation Technique in Maxillofacial Gunshot Injury - A Case Report.

Rationale: Maxillofacial gunshot injury leads to significant soft tissue and bone defects, which compromise airway patency, thus posing a challenge for the anaesthesiologist. The utility of the videolaryngoscopy-assisted fibreoptic intubation (VAFI) technique in maxillofacial gunshot injury has not yet been described in the literature. Patient Concerns: We report the case of a young male presenting with extensive maxillofacial wounds with fractures of the bilateral maxilla, mandible and floor of orbit secondary to self-inflicted gunshot injury. Diagnosis: Major peri-operative concerns included anticipated difficult airway, control of potential haemorrhage and airway oedema. Treatment: A flexible fibreoptic bronchoscope used in combination with a video laryngoscope was used to successfully secure the airway. Outcome: He was extubated on the same day and discharged after two weeks. Take-Away Lessons: The current case highlights the safe and effective use of the videolaryngoscopy-assisted fibreoptic intubation technique in maxillofacial gunshot injury.

Compact ultrasound-guided diffuse optical tomography system for breast cancer imaging.

Near-infrared diffuse optical tomography (DOT) has demonstrated a great potential as an adjunct modality for differentiation of malignant and benign breast lesions and for monitoring treatment response in patients with locally advanced breast cancers. The path toward commercialization of DOT techniques depends upon the improvement of robustness and user-friendliness of this technique in hardware and software. In this study, we introduce our recently developed ultrasound-guided DOT system, which has been improved in system compactness, robustness, and user-friendliness by custom-designed electronics, automated data preprocessing, and implementation of a new two-step reconstruction algorithm. The system performance has been tested with several sets of solid and blood phantoms and the results show accuracy in reconstructed absorption coefficients as well as blood oxygen saturation. A clinical example of a breast cancer patient, who was undergoing neoadjuvant chemotherapy, is given to demonstrate the system performance.

Thermal therapy, Part III: ablation techniques.

Ablative treatments are gaining increasing attention as an alternative to standard surgical therapies, especially for patients with contraindication or those who refuse open surgery. Thermal ablation is used in clinical applications mainly for treating heart arrhythmias, benign prostate hyperplasia, and nonoperable liver tumors; there is also increasing application to other organ sites, including the kidney, lung, and brain. Potential benefits of thermal ablation include reduced morbidity and mortality in comparison with standard surgical resection and the ability to treat nonsurgical patients. The purpose of this review is to outline and discuss the engineering principles and biological responses by which thermal ablation techniques can provide elevation of temperature in organs within the human body. Because of the individual problems associated with each type of treatment, a wide range of ablation techniques have evolved including cryoablation as well as ultrasound, radiofrequency (RF), microwave, and laser ablation. Aspects of each ablation technique, including mechanisms of action, equipment required, selection of eligible patients, treatment techniques, and patient outcomes are presented, along with a discussion of limitations of the techniques and future research directions.

Thermal therapy, Part IV: electromagnetic and thermal dosimetry.

In this article some of the important techniques in electromagnetic (EM) and thermal dosimetry are reviewed. Three major areas are discussed: modeling power deposition and estimation of EM energy absorbed by tissues exposed to EM radiation, electrical-thermal modeling for thermal therapy with various models of heat transfer in living tissues, and thermal dosimetry using invasive and noninvasive thermometry. Knowledge about the temperature distributions achieved can only be obtained by treatment planning of patient therapy. This process is called thermal therapy planning system (TTPS), which is a large and complex system for design, control, documentation, and evaluation of the treatment that also provides data for treatment optimization. Various imaging techniques for guidance and monitoring necessary for clinical treatments are also discussed. The review concludes by suggesting future avenues for investigations.

Thermal therapy, part 1: an introduction to thermal therapy.

Thermal therapy is widely known and electromagnetic (EM) energy, ultrasonic waves, and other thermal-conduction-based devices have been used as heating sources. In particular, advances in EM technology have paved the way for promising trends in thermotherapeutical applications such as oncology, physiotherapy, urology, cardiology, ophthalmology, and in other areas of medicine as well. This series of articles is generally written for oncologists, cancer researchers, medical students, biomedical researchers, clinicians, and others who have an interest in this topic. This article reviews key processes and developments in thermal therapy with emphasis on two techniques, namely, hyperthermia [including long-term low-temperature hyperthermia (40-41 degrees C for 6-72 hr), moderate-temperature hyperthermia (42-45 degrees C for 15-60 min), and thermal ablation, or high-temperature hyperthermia (> 50 degrees C for > 4-6 min)]. The article will also provide an overview of a wide range of possible mechanisms and biological effects of heat. This information will be discussed in light of what is known about the degree of temperature rise that is expected from various sources of energy. The review concludes with an evaluation of human exposure risk to EM energy or the corresponding heat, trends in equipment development, and future research directions.

Thermal therapy, part 2: hyperthermia techniques.

Hyperthermia, the procedure of raising the temperature of a part of or the whole body above normal for a defined period of time, is applied alone or as an adjunctive with various established cancer treatment modalities such as radiotherapy and chemotherapy. Clinical hyperthermia falls into three broad categories, namely, (1) localized hyperthermia, (2) regional hyperthermia, and (3) whole-body hyperthermia (WBH). Because of the various problems associated with each type of treatment, different heating techniques have evolved. In this article, background information on the biological rationale and current status of technologies concerning heating equipment for the application of hyperthermia to human cancer treatment are provided. The results of combinations of other modalities such as radiotherapy or chemotherapy with hyperthermia as a new treatment strategy are summarized. The article concludes with a discussion of challenges and opportunities for the future.

Iatrogenic blunt arterial injury during a hip fracture surgery.

Iatrogenic non-penetrating arterial injuries have been reported following primary and revision hip arthroplasties. We report a patient who developed acute limb ischaemia after dynamic hip screw fixation was performed for an unstable intertrochanteric fracture. We discuss a previously unreported mechanism of traction creating tension on the atherosclerosed vessels and medial retraction tenting and breaking the vessel wall lining. This case highlights a serious complication in one of the most commonly performed hip surgeries.

Snapping knee: an unusual biceps femoris tendon injury.

We report a case of acute post-traumatic snapping of the biceps femoris tendon following a soccer injury. Surgical stabilisation, achieved by re-routing the tendon insertion through a tunnel in the fibular head, resolved the symptoms after conservative management failed. We believe this is the first report of a 'snapping knee' resulting from direct injury to the biceps femoris tendon insertion.

Modeling of noninvasive microwave characterization of breast tumors.

This paper describes an approach for the noninvasive microwave characterization of tumors in breast tissue. Tumors are modeled as lossy dielectric targets. Their complex natural resonances (CNR) can be extracted from the time-domain response and correlated with diagnostically useful properties. Finite-difference time-domain simulation is used to obtain the time-domain response from a tumor with a short electromagnetic pulse as an input. The normal breast tissue and tumor are modeled as dispersive media using the Debye model and CNRs are extracted using Prony's method. It is shown that the locations of the dominant CNRs are separated in the complex frequency plane as functions of the tumor dielectric properties. The technique has potential as a diagnostic tool to characterize breast lesions in conjunction with other imaging modalities such as ultrasound for detection.

Intrarater and interrater reliability of the socket version marker in total hip replacement.

The aim of this study was to evaluate the intraobserver and interobserver variability in determining the socket version using the wire marker. 100 anteroposterior pelvis radiographs of cemented primary total hip replacements were reviewed by two orthopaedic consultants and registrars, twice. Intrarater and interrater reliability were assessed using Cohen's kappa. Intrarater kappas for junior doctors were 0.78 and 0.80, 0.73 and 0.62 for Consultants. Interrater kappas were 0.60 between the two Consultants and 0.63 between the two Junior Doctors. The kappas between Consultant A and Junior Doctor A was 0.61, between Consultant A and Junior Doctor B was 0.59, between Consultant B and Junior Doctor A was 0.53 and between Consultant B and Junior Doctor B was 0.46. Intrarater reliability was substantial for the two junior doctors and the two consultants. Interrater reliability was moderate-to-substantial between the two consultants, between the two junior doctors and between each pair of junior doctors/consultants.

Evaluation of postoperative analgesic efficacy of transversus abdominis plane block after abdominal surgery: A comparative study.

BACKGROUND: The transversus abdominis plane (TAP) block is an effective method of providing postoperative analgesia in patients undergoing midline abdominal wall incisions, by blocking the abdominal wall neural afferents via the bilateral lumbar triangles of Petit. We evaluated its analgesic efficacy in patients during the first 48 postoperative hours after abdominal surgery, in a randomized, controlled single-blind clinical trial. MATERIALS AND METHODS: Sixty patients (mean age 36.2 ± 9.6 years) of either sex of ASA grade 1 and 2 who underwent major gynecological or surgical operation were randomized either to receive standard care, including patient-controlled tramadol analgesia (n = 30), or to undergo TAP block (n = 30) in addition to standard care. After completion of surgery, 20 ml of 0.375% levobupivacaine was deposited into the transversus abdominis neurofascial plane via the bilateral lumbar triangles of Petit. Each patient was assessed in the postanesthesia care unit and at 2, 4, 6, 12, 24, and 48 h postoperatively. RESULTS: The TAP block reduced Visual Analog Scale pain scores at most (2, 4, 6, 12, 24 h), but not at all time (36, 48 h) points assessed. Patients undergoing TAP block had reduced tramadol requirement in 24 h (210.05 ± 20.5 vs. 320.05 ± 10.6; P < 0.01) and 48 h (508.25 ± 20.6 vs. 550.25 ± 20.6; P < 0.01), and a longer time to the first PCA tramadol request (in minutes), compared to the control group (178.5 ± 45.6 vs. 23.5 ± 3.8; P < 0.001). CONCLUSION: The TAP block provided highly effective postoperative analgesia in the first 24 postoperative hours after major abdominal surgery, and no complications due to the TAP block were detected.

Principles, applications, risks and benefits of therapeutic hyperthermia.

Hyperthermia as a heat therapy is the procedure of raising the temperature of a part of or the whole body above normal for a certain period of time. Based largely on delivery methods, therapeutic hyperthermia falls under three major categories: local, regional, and whole-body. It may be applied alone or jointly with other modalities such as radiotherapy, chemotherapy, radiochemotherapy, and gene therapy. Because of the individual characteristics of each type of treatment, different types of heating systems have evolved. This paper provides an overview of possible mechanisms of heat-induced cell death and the way heating exerts its beneficial effect. It also discusses various heating devices as well as other modalities used with hyperthermia. The paper concludes with a summary of benefits and risks, obstacles encountered in the treatment process, and future research directions.

Locking plate osteosynthesis for Vancouver Type B1 and Type C periprosthetic fractures of femur: a report on 12 patients.

Many methods have been described to stabilise periprosthetic fractures around a total hip arthroplasty. Locking plate fixation offers increased angular stability and, theoretically, better fixation in osteoporotic bone. This study presents our results with the use of locking plate fixation for Vancouver Type B1 and Type C periprosthetic fractures following total hip arthroplasty (THA). Twelve patients underwent fixation of periprosthetic fractures with either a locking compression plate (LCP) or a distal femur less invasive stabilisation system (LISS). There were six Type B1 and six Type C fractures. One patient died soon after surgery. The mean follow-up was 13.9 months (range 12-18 months). The fracture healed in 10 of the remaining 11 patients with a median time to union of 4.8 months. There was one implant failure prior to fracture healing and one implant failure after fracture healing. Both were attributed to technical errors. Seven patients returned to their previous level of mobility. Two patients required the use of one walking stick after fracture healing, but had been able to walk unaided before their fall. One patient required two sticks, after previously requiring only a single stick. There were no infections. Our experience encourages us that locking plates have a role to play in managing periprosthetic fractures around a stable femoral stem, especially in patients with poor soft tissue and osteoporosis.