Myeloblastic meningeal neoplasm: an unusual natural history.

Myeloid sarcoma is a very rare extramedullary malignant tumour, most often associated with acute myeloid leukaemia. We report the case of a man in his early 20s who presented with chronic headache, raised intracranial pressure and progressive vision loss of 2 years duration with no systemic manifestations. He had a history of myeloid sarcoma of the left thigh 15 years ago, treated with external beam radiotherapy and in complete remission for more than 13 years. However, the progressive blindness remained unexplained for 2 years, and he was eventually diagnosed with isolated meningeal relapse without marrow or systemic involvement. Imaging revealed subarachnoid haemorrhage, diffuse leptomeningeal enhancement and involvement of lower dorsal cord and conus, and cerebrospinal fluid cytology showed myeloid blasts. He was managed with intrathecal chemotherapy and craniospinal irradiation, after which he had mild improvement in vision.

Congenital Myasthenic Syndrome Caused by DOK7 Mutation in a Quinquagenarian Male with Calf Hypertrophy.

ABSTRACT: Congenital myasthenic syndromes (CMS) are relatively rare neurologic syndromes of defective neuromuscular transmission that stem from mutations in various proteins at the myoneural junction. Classically, the patients present within the first 2 years of life; however, the disease can also have onset in the second or third decade of life. The disease characteristically involves the skeletal muscles and spares smooth and cardiac muscles. The patients present with weakness involving ocular, limb, axial, or bulbar muscles. The specific diagnosis in most cases is clinched by genetic testing. We report a 59-year-old man presenting with neuromuscular weakness for 3 years and calf hypertrophy. He had myopathic features on electrophysiologic studies with a decremental response on repetitive nerve stimulation. Genetic testing confirmed a diagnosis of DOK7 CMS. He was managed with salbutamol and showed significant improvement.

Complex motor tics and neurobehavioral syndrome in diencephalic-mesencephalic junction dysplasia: Association or causation?

Too little is known about DMJD in adults. Various phenotypic presentations in adults with DMJD and long-term follow-up is needed to further characterise this disease.

Enoxaparin-induced Wunderlich syndrome in a young patient with anti-GAD 65-associated opsoclonus and limbic encephalitis: a rare complication in a rare disease.

Wunderlich syndrome is a rare condition characterised by acute spontaneous non-traumatic renal haemorrhage into the subcapsular and perirenal spaces. Our case of anti-GAD65-associated autoimmune encephalitis (AE), aged 30 years, developed this complication following use of enoxaparin and was managed by selective glue embolisation of subsegmental branches of right renal cortical arteries. Our case had opsoclonus as one of the clinical manifestations, which has till now been described in only two patients of this AE. This patient received all forms of induction therapies (steroids, plasmapheresis, intravenous immunoglobulin and rituximab) following which she had good improvement in her clinical condition. The good response to immunotherapy is also a point of discussion as this has been rarely associated with anti-GAD65 AE.

Electrical Stimulation to Enhance Wound Healing.

Electrical stimulation (ES) can serve as a therapeutic modality accelerating the healing of wounds, particularly chronic wounds which have impaired healing due to complications from underlying pathology. This review explores how ES affects the cellular mechanisms of wound healing, and its effectiveness in treating acute and chronic wounds. Literature searches with no publication date restrictions were conducted using the Cochrane Library, Medline, Web of Science, Google Scholar and PubMed databases, and 30 full-text articles met the inclusion criteria. In vitro and in vivo experiments investigating the effect of ES on the general mechanisms of healing demonstrated increased epithelialization, fibroblast migration, and vascularity around wounds. Six in vitro studies demonstrated bactericidal effects upon exposure to alternating and pulsed current. Twelve randomized controlled trials (RCTs) investigated the effect of pulsed current on chronic wound healing. All reviewed RCTs demonstrated a larger reduction in wound size and increased healing rate when compared to control groups. In conclusion, ES therapy can contribute to improved chronic wound healing and potentially reduce the financial burden associated with wound management. However, the variations in the wound characteristics, patient demographics, and ES parameters used across studies present opportunities for systematic RCT studies in the future.

Comparison of Transcutaneous Electric Nerve Stimulation (TENS) and Microcurrent Nerve Stimulation (MENS) in the Management of Masticatory Muscle Pain: A Comparative Study.

Introduction: Temporomandibular disorders (TMDs) are a heterogeneous group of pathologies affecting the temporomandibular joint (TMJ), the jaw muscles, or both. Epidemiological studies of TMD reveal a prevalence of 82% in the general population with 48% of them presenting with clinical features of muscle tenderness and difficulty in mouth opening. TMD are considered to be the most common orofacial pain conditions of nondental origin. Methods: The patients with TMD were randomly divided into two groups, A and B, based on their VAS scale. Group A consists of two subgroups 1 and 2 each consisting of 15 patients. Group B consists of two subgroups 3 and 4 consisting of 15 patients. Patients in Group A were given TENS for twenty minutes, and the frequency is adjusted as follows: (i) subgroup 1: TENS frequency at a range of 0-5 (VAS measuring 1-5) and (ii) subgroup 2: TENS frequency at a range of 5 and above (VAS measuring 6-10). Patients in Group B were given MENS for twenty minutes, and the frequency adjusted as follows: (i) subgroup 3: MENS frequency at range of 0-5 (VAS measuring 1-5) and (ii) subgroup 4: MENS frequency at a range of 5 and above (VAS measuring 6-10). Each patient was recalled for five consecutive days for the treatment, and the same intensity and frequency were maintained throughout the treatment period. Results: The improvement in VAS is seen to be highly significant statistically in MENS subgroup 4 (moderate-to-severe pain). Subgroups 1 and 3 had improvement in VAS which was comparable in both TENS and MENS groups. Conclusion: In the present study, it was found that TENS and MENS are equally effective in improving the functional mouth opening. MENS showed better and immediate effect in relief of pain. Microcurrent also has the advantage of being subthreshold, and hence the side effects such as tingling sensation and paresthesia seen to occur in some patients following TENS are absent. TENS and MENS can be considered as the first line of treatment in patients with acute and chronic masticatory muscle pain and also as an effective treatment option in cases of functional mouth opening.

Comparative Analysis of the Molecular Adjuvants and Their Binding Efficiency with CR1.

There are so many obstacles in developing a vaccine or vaccine technology for diseases like cancer and human immunodeficiency virus infection. While developing vaccines that target specific infection, molecular adjuvants are indispensable. These molecular adjuvants act as a vaccine delivery vehicle to the immune system to increase the effectiveness of the specific antigens. In the present work, a computational study has been done on molecular adjuvants like IgGFc, GMCSF and C3d to find out how efficiently they are binding to CR1. Sequence, structure and mutational analysis are performed on the molecular adjuvants to understand the features important for their binding with the receptor. Results obtained from our study indicate that the adjuvant IgGFc complexed with the receptor CR1 has the best binding efficiency, which can be used further to develop better vaccine technologies.

Comparative analysis of the molecular adjuvants and their binding efficiency with CR1.

There are so many obstacles in developing a vaccine or vaccine technology for diseases like Cancer and Human Immunodeficiency Virus (HIV) infection. While developing vaccines that targets specific infection, molecular adjuvants are indispensable. These molecular adjuvants act as a vaccine delivery vehicle to the immune system to increase the effectiveness of the specific antigens. In the present work, a computational study has been done on molecular adjuvants like IgGFc, GMCSF and C3d to find out how efficiently they are binding to CR1. Sequence, structure and mutational analysis are performed on the molecular adjuvants to understand the features important for their binding with the receptor. Results obtained from our study indicate that the adjuvant IgGFc complexed with the receptor CR1 has the best binding efficiency, which can be used further to develop better vaccine technologies.

Translocation t(X;11)(q22;q25) in a woman with premature ovarian failure.

Genetic, autoimmune, environmental, iatrogenic, and idiopathic factors are known to cause premature ovarian failure (POF). This report describes an X;11 translocation, t(X;11)(q22;q25), in a woman diagnosed with POF. The FSH level was found to be elevated. Menstrual cycle was regular initially, and she had a spontaneous abortion at the 5th month of gestation at 16 years of age. Her mother was karyotypically normal while her father was not investigated. Male carriers of X;autosome translocations are mostly infertile, and hence the translocation is presumed to be of de novo origin. Fluorescence in situ hybridization using whole chromosome paint probes confirmed the rearrangement.