Epithelioid malignant peripheral nerve sheath tumour of the ulnar nerve around the elbow: a diagnostic and therapeutic challenge.

Epithelioid malignant peripheral nerve sheath tumour (EMPNST) is a rare histological subtype of malignant peripheral nerve sheath tumour (MPNST), accounting for 5% to 17% of MPNSTs. The clinical and MRI findings of EMPNST mimic those of nerve abscesses, similar to the presentation in Hansen's disease. We present one such case with this kind of diagnostic dilemma. Intraoperative findings suggest a tumour changed the course of management subsequently. The development of neurological deficits postoperatively after tumour resection was a reconstructive challenge. To provide motor power and sensation through a procedure that provides a complete functional outcome for a young patient, distal nerve transfers were chosen. This provided an improvement in the quality of life and hastened the neurological recovery of the involved limb. Level of evidence: V.

Bilateral Post-traumatic Brachial Plexus Injury in an Adult: A Note on the Probable Mechanism of Injury.

Bilateral brachial plexus injury is rare following a motor vehicle accident in an adult. We report a 35-year-old man with a bilateral brachial plexus injury. Explaining the mechanism of such an injury is essential to prognosticate the outcome. Fall from the bike, and the position determines the mechanism. The head-shoulder hitting the surface has an avulsion injury (ipsilateral), and the recoiling effect causes traction injury to the contralateral side. Our case had a C5,6 avulsion injury on the right side (ipsilateral) and a C5,6 traction injury (contralateral) to his left side. Surgical exploration and distal nerve transfers were done on the right side. The patient improved his shoulder and elbow function of grade 3, neurolysis of the brachial plexus was done on the left side, and the recovery was complete at 12 months of follow-up.

Wrist Arthrodesis Using a Trapezoidal Wedge Graft from the Distal Radius and a Low-Profile Reconstruction Plate.

Background: Various intramedullary or dorsally based fusions have been utilised to perform wrist arthrodesis. Although the dorsal plate is rigid and well constructed, the standard of care was replenishing the arthrodesis site with an iliac crest bone graft. Due to the high morbidity of the donor site, alternatives such as distal radius bone grafts have gained popularity. In this study, wrist arthrodesis was performed with a locally accessible trapezoidal wedge graft from the distal radius and a low-profile reconstruction plate to evaluate the radiological and functional outcome. Methods: We retrospectively reviewed 22 wrists, 14 brachial plexus injuries, 4 post-traumatic injuries, and 4 rheumatoid arthritis patients, with a mean follow-up of 31 months. Union was evaluated on radiography. The functional outcomes were evaluated using a visual analog scale incorporated into a questionnaire. Results: All 22 fusions united successfully, with a mean duration of 12 weeks and a wrist position of an average 17.5 degrees of extension and 6 degrees of ulnar deviation. The aesthetics of the wrist showed the most significant change, and overall satisfaction levels increased. Conclusions: A locally accessible cortico-cancellous graft from the dorsum of the radius is a reliable alternative to an iliac crest or carpal bone graft with high potential for the union. It also serves as a stable strut in our construct, allowing us to use a low-profile reconstruction plate. The Reconstruction (3.5 System) plate can be used safely with excellent results and a low implant prominence or breakage risk.

A Novel Method of Spinal Accessory Nerve Banking Using Silicone Catheter for Functioning Free Muscle Transfer.

In secondary brachial plexus reconstruction, exploring an area that has already been operated on is challenging and time-consuming for a surgeon, especially in centers with a single-team approach. Due to their inertness and lack of adverse effects, silicone Foley catheters were used successfully during the reconstruction of flexor tendons. Based on the concept, we have achieved an acceptable functional outcome by banking the spinal accessory nerve in a silicon catheter for gracilis reanimation, which permits smooth dissection, maintains the length, and shortens the operating time for subsequent reconstruction. Level of Evidence: Level V.

Unusual presentation of carpal tunnel syndrome due to Mycobacterium marinum infection of hand.

We report a case of a fisherman presenting with a rare and unusual carpal tunnel syndrome due to Mycobacterium marinum infection of the hand and wrist. The infection resulted in severe pain, paresthesia and restriction of movement in the hand.Flexor tenosynovectomy, followed by histological and microbiological studies, indicated the presence of atypical mycobacteria. The patient was started on a combination antimicrobial therapy for 6 months. The patient regained full range of motion and returned to perform daily activities with ease.Diagnosis of M. marinum infection of the hand is challenging as the presentation mimics other conditions and may have nonspecific histological findings. This atypical mycobacterium may also show resistance to commonly used antitubercular drugs. Hand surgeons should maintain a high index of suspicion of M. marinum and adopt a multiteam approach to prevent delay in diagnosis for successful treatment.

Congenital hand differences: Prevalence among school going children in Mangalore city.

Introduction: Congenital upper extremity anomalies are present in 1 in every 626 live births. They are mostly isolated phenomena but can also be associated with other congenital deformities and may be the only external feature of a syndromic entity. A study on it in India, especially the southern part, is limited. As the quality of life gets compromised, there is a need to identify and diagnose the anomalies at the earliest. Current study is aimed to identify congenital hand deformities among the school-going population in the coastal city of Mangalore.A cross sectional study was done in the schools in Mangalore city. By simple random sampling, 35 out of 70 schools were selected, and 10,000 children in age group of 5-15years were included by non-probability sampling after taking their consent from school authorities and parents. Data was analyzed by FISHER's exact test. Result: 41 cases of congenital hand anomalies were identified with 23 boys and 18 girls. Twelve children had bilateral involvement. 28 cases where of polydactyly followed by four cases of acrosyndactyly with constriction band, three cases each of syndactyly and camptodactyly,one case of lobster hand and one case each of transverse deficiency of hand and forearm. Associated lower limb anomalies were seen in 9 cases. Familial associations were seen in 6 cases, and 1 polydactyly child had a downs syndrome association. All cases[4cases] of acrosyndactyly with constriction band syndrome were operated at childhood, and most other deformities were unoperated. Polydactyly[duplication] tops the list and needs further studies to look into genetic, environmental, and regional variations. Conclusion: The prevalence of congenital hand difference in Mangalore is 41 per 10000 school-going children examined. . A future national registry in India should be the way forward to assess the true prevalence and risk factors.

[13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis.

Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose-1-phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well established, the extent of the clinical phenotype is still under investigation. We describe a 6-year-old female who was diagnosed with galactokinase deficiency due to cataract formation when she was 10 months of age and initially started on galactose-restricted diet at that time for 5 months. She developed gait abnormality at 4 years of age. Breath tests via measurement of 13C isotope in exhaled carbon dioxide following 13C-labeled galactose administration at carbon-1 and carbon-2 positions revealed oxidation rates within the normal range. The results in this patient strikingly contrast with the results of another patient with GALK1 deficiency that underwent breath testing with [1-14C]-galactose and [2-14C]-galactose. Extension of in vivo breath tests to other galactokinase patients is needed to better understand the pathophysiology of this disease.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

PURPOSE: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. METHODS: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. RESULTS: The cohort of 27 patients all had novel variants, and ranged in age from 2 to 68 years. All had developmental delay/intellectual disability. Autism spectrum disorders/autistic features were reported in 69%, attention disorders or hyperactivity in 67%, craniofacial features (no recognizable facial gestalt) in 67%, structural brain anomalies in 24%, and seizures in 12%. Additional features affecting various organ systems were described in 93%. In a majority of patients, we did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports. CONCLUSION: We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20.

Incontinentia pigmenti.

Incontinentia pigmenti is an X- linked dominant condition characterized by cutaneous lesions associated with developmental defects of the eye, skeletal system and central nervous system. We report a case of incontinentia pigmenti in a 30 day old female infant who presented to us with skin eruptions over bilateral upper limbs, lower limbs and trunk since birth. She had linear verrucous plaques and vesicles distributed along the Blaschko's lines in addition to macular hyperpigmentation in a linear and whorled pattern involving the concerned areas. On ophthalmological examination, proliferative retinopathy in the right eye was noted.

Salivary protein concentration, flow rate, buffer capacity and pH estimation: A comparative study among young and elderly subjects, both normal and with gingivitis and periodontitis.

BACKGROUND: To evaluate the salivary protein concentration in gingivitis and periodontitis patients and compare the parameters like salivary total protein, salivary albumin, salivary flow rate, pH, buffer capacity and flow rate in both young and elderly patients with simple methods. MATERIALS AND METHODS: One hundred and twenty subjects were grouped based on their age as young and elderly. Each group was subgrouped (20 subjects) as controls, gingivitis and periodontitis. Unstimulated whole saliva was collected from patients and flow rate was noted down during collection of the sample. Salivary protein estimation was done using the Biuret method and salivary albumin was assessed using the Bromocresol green method. pH was estimated with a pHmeter and buffering capacity was analyzed with the titration method. Student's t-test, Fisher's test (ANOVA) and Tukey HSD (ANOVA) tests were used for statistical analysis. RESULTS: A very highly significant rise in the salivary total protein and albumin concentration was noted in gingivitis and periodontitis subjects of both young and elderly. An overall decrease in salivary flow rate was observed among the elderly, and also the salivary flow rate of women was significantly lower than that of men. CONCLUSION: Significant associations between salivary total protein and albumin in gingivitis and periodontitis were found with simple biochemical tests. A decrease in salivary flow rate among elderly and among women was noted.

Preparation and characterisation of fluconazole vaginal films for the treatment of vaginal candidiasis.

Objective of the present study was to develop and evaluate vaginal films with essential in vitro studies. Films were developed using hydroxypropyl methylcellulose as a polymer and formulations were coded. The developed films were evaluated with Fourier transform infrared spectroscopy, drug content, viscosity, surface pH, thickness, mechanical characterisation and in vitro drug release study. Fourier transform infrared spectroscopy results confirmed that there is no chemical interaction between drug and stabilisers/excipients. The batch variation was not more than 5% for average thickness and weight of the films. The drug content for the prepared formulation was in the range of 72.32±0.18% to 94.48±0.54%. Viscosity of the formulations increased with the increase in concentration of polymer. Mechanical characterisation revealed that tensile strength and percentage elongation of the films improved as there is increase in degree of substitution of the polymer, but the values of modulus decreased which confirmed that all the prepared films are soft in nature. The in vitro study indicated that 1 and 2% concentrations of polymer are the least concentrations to control the release of drug whereas the 4% concentration of polymer is a good and more effective concentration to control the release. Only one prepared formulation released the drug by following anomalous transport whereas other film formulations released the fluconazole by following Fickian diffusion mechanism. Prepared vaginal films may be an important alternative for the treatment of vaginal candidiasis, because these prepared films suggest the benefits of controlled release of fluconazole at the site of absorption.

Cardiofaciocutaneous syndrome: a rare entity.

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

Extensive presentation of verruca plana in a healthy individual.

A 27-year-old healthy man presented with non-itchy hyperpigmented skin lesions involving the trunk of duration 3 years. Examination revealed numerous coalescing, rough, slightly elevated brownish papules involving large areas of back, chest, and abdomen. There were no other cutaneous or systemic findings. Cutaneous biopsy was suggestive of verruca plana, which confirmed our clinical diagnosis. Here, we report this case of verruca plana due to its rare extensive involvement and unusual site in a non-immunocompromised individual.

Developmental delay timely identification and assessment.

This paper outlines the prevalence of developmental delay in children and discusses the recent literature regarding the benefits of early identification and evidence based strategies for developmental surveillance and screening. We describe a systematic approach to the child with developmental delay and the optimal methodology for arriving at the etiologic basis for the delay. A review of the most upto date and relevant literature was completed using Pub Med, online databases, and texts. The medical evaluation with specific emphasis on the most recent recommendations for genetic, laboratory and imaging studies is described. The American Academy of Pediatrics algorithm for developmental surveillance and screening is discussed with consideration for the importance of culturally relevant screening tools across populations. In addition, specific screening tools are briefly discussed that may prove beneficial to the primary care provider as he/she implements routine surveillance and screening.

Onset of an insulating zero-plateau quantum Hall state in graphene.

We analyze the dissipative conductance of the zero-plateau quantum Hall state appearing in undoped graphene in strong magnetic fields. Charge transport in this state is assumed to be carried by a magnetic domain wall, which forms by hybridization of two counterpropagating edge states of opposing spin due to interactions. The resulting nonchiral edge mode is a Luttinger liquid of parameter K, which enters a gapped, perfectly conducting state below a critical value K_{c} approximately 1/2. Backscattering in this system involves spin flip, so that interaction with localized magnetic moments generates a finite resistivity Rxx via a "chiral Kondo effect." At finite temperatures T, Rxx(T) exhibits a crossover from metallic to insulating behavior as K is tuned across a threshold K_{MI}. For T --> 0, Rxx in the intermediate regime K_{MI} < K < K_{c} is finite, but diverges as K approaches K_{c}. This model provides a natural interpretation of recent experiments.

Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report.

Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, repetitive/compulsive tendencies, poor social skills, and language delays. A multidisciplinary evaluation concluded that the patient met full criteria for autism. A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 duplication. The potential implication with regard to autism spectrum disorders has not been previously discussed in the literature.