Joubert Syndrome with a Rare Ocular Phenotype: Coloboma with Retrobulbar Cysts - A Case Report.

Joubert syndrome (JS) is a rare, autosomal recessive, genetic syndrome that derives from the defects in a sensory organelle, the primary cilia. It is a multiorgan disorder affecting the brain, kidneys, liver, and eyes. The most common presenting feature in the newborn period is hypotonia, abnormal eye movements, irregular breathing pattern, characterized by episodic hyperpnea and apnea, later on, ataxia, and developmental retardation. Besides, a range of highly variable, systemic and ocular features can be present. We report a case of 2-month-old female infant, the product of a consanguineous marriage, with a sibling affected by JS, presenting with intermittent hyperpnea, apnea, facial dysmorphism, strabismus, oculomotor apraxia, proptosis, retinal dystrophy, chorioretinal coloboma, and large retrobulbar cysts communicating with the coloboma. Magnetic resonance imaging of the brain revealed the characteristic neuroradiologic finding, the "molar tooth sign." The child does not fix or follow the light, and the visual prognosis with all the ocular features of the syndrome present is extremely poor. In addition to adding to the diversity of ocular phenotypes, this case reiterates the importance of identifying the syndrome, understanding the varied ocular phenotypic presentations, need for further research on causative genes, prenatal diagnosis in affected families, interventions, and adequate genetic counseling.

Interobserver Agreement and Intraobserver Reproducibility of Barzullah Working Classification of Distal End Radius Fractures among Orthopaedic Residents.

BACKGROUND: The purpose of this study is to test the hypothesis of the new classification system of distal end radius fractures (Barzullah working classification) proposed by one of the author in a prospective cohort study, among the orthopaedic residents. METHODS: The initial post-injury radiographs of 300 patients with distal radius fractures in a tertiary centre were classified by two junior residents (JR1 and JR2) and two senior residents (SR1 and SR2) in the emergency department over a period of two years. The collected data was analysed statistically by using Cohan's kappa for measuring Intraobserver reproducibility and Fleiss kappa for measuring Interobserver agreement. RESULTS: The mean kappa value for Interobserver agreement was 0.53 (moderate agreement) at the end of one year and the mean kappa value at the end of study period was 0.64 (substantial agreement). The mean kappa value for Intraobserver reproducibility of JR1 was 0.45 (moderate agreement), JR2 was 0.39 (fair agreement), SR1 was 0.62 (substantial agreement) and SR2 was 0.67 (substantial agreement). CONCLUSIONS: Barzullah working classification of distal radius fractures presented in this study has good characteristics compared to those of already studied classification systems among orthopaedic residents.

A Study to Analyses Pattern and Treatment of Upper Cervical Spine Injuries Experience From Developing World.

BACKGROUND: The literature regarding the different patterns of upper cervical spine injuries, their appropriate management, and management development of such injuries is scarce in the world. OBJECTIVES: The current study aimed to present the experience regarding the high velocity trauma of upper cervical spine injuries. PATIENTS AND METHODS: Thirty patients (22 males, 8 females) with upper cervical spine injuries were treated and followed-up for an average of 24 months. The corresponding data were analyzed with respect to various types of injuries and different treatment modalities used to treat such patients keeping the basic healthcare facilities in view. RESULTS: The clinical as well as radiological outcomes of the treatment of such injuries were mostly achievable with minimum facilities in India, with only few complications. CONCLUSIONS: Managing such patients needs a proper transport facility, proper care during transport, appropriate evaluation in the hospital and prompt conservative or operative treatment. Treatment is usually safe and effective by well trained professionals with good clinical and radiological outcomes.

Anterior Tarsal Tunnel Syndrome With Thrombosed Dorsalis Pedis Artery: A Case Report.

INTRODUCTION: The aanterior tarsal tunnel syndrome denotes the entrapment of the deep peroneal nerve under the inferior extensor retinaculum. Although various etiological factors have been reported to cause anterior tarsal syndrome, its occurrence with thrombosed dorsalis pedis artery has not been reported in the English literature. CASE PRESENTATION: A 40 -year-old male patient was presented with the history of persistent pain along the dorsal surface of right foot, which was aggravated with the activities. Conservative management was tried without much relief. Diagnosis of anterior tarsal tunnel syndrome was made and the patient was planned for surgery. Thrombosed dorsalis pedis artery was found along with two adjacent collateral vessels. Retinaculum was released and nerve was mobilized. Tight compartment got released. Postoperative period was uneventful. No recurrence was seen on follow-up. CONCLUSION: The anterior tarsal tunnel syndrome is a known disease. A high index of clinical suspicion is required while dealing with the chronic cases. A detailed history to rule out any traumatic event is necessary too. Timely investigations and surgical release give dramatic relief.

Correlation between magnetic resonance imaging and arthroscopic findings in the knee joint.

BACKGROUND: The knee joint is the largest and the most complex joint of the human body. It is not covered by any thick muscular covering anteriorly. OBJECTIVES: The purpose of this study was to explore the diagnostic capabilities of clinical examination, magnetic resonance imaging (MRI), and arthroscopy in traumatic disorders of the knee joint, to seek correlation between clinical findings, MRI findings and arthroscopic. PATIENTS AND METHODS: A total of 26 patients with a presentation suggestive of traumatic knee pathology were studied prospectively. A detailed history was taken and relevant clinical examination was done, which was followed by MRI of the knee. The patients were scheduled for arthroscopy under general/spinal anesthesia, whenever indicated. RESULTS: Keeping arthroscopic examination as standard, the correlation between clinical and arthroscopy showed a sensitivity of 80%, specificity of 86%, accuracy of 63.16%, negative predictive value of 93.48%; whereas MRI vs. arthroscopy showed a sensitivity of 74.42%, specificity of 93.10%, accuracy of 84.21%, and negative predictive value of 88.04%. CONCLUSIONS: The clinical examination is an important and accurate diagnostic modality for evaluation of traumatic derangement of the knee joint. It is noninvasive, easy, available, and valuable diagnostic modality. The MRI is an accurate diagnostic modality. It can be used whenever there is an uncertain indication for arthroscopy. However, costs have to be kept in mind, especially in patients with low socio-economic status.

Functional outcome of distal radius fractures managed by barzullah working classification.

BACKGROUND: Management of distal radius fractures (DRFs) is still controversial and may be influenced by the initial fracture classification. Even though numerous classification systems have been proposed in this regard, the evaluation and management of this fracture has remained problematic. OBJECTIVES: The purpose of this study was to evaluate the functional outcome of DRF managed on the basis of a new classification. This classification named as Barzullah Working Classification represents a modification of Melone classification, which is based on fracture stability. PATIENTS AND METHODS: A total of 310 DRFs of patients skeletally matured referred to a tertiary care hospital at a period of 18 months were classified as per the new classification system into four types; metaphyseal stable, metaphyseal unstable, radiocarpal stable, and radiocarpal unstable fractures. They were managed and followed over a mean period of 15.10 ± 5.4 months, and the results were recorded at the final follow-up. RESULTS: The mean age of the patients was 51.22 ± 20.58 years. Most of the patients were females (n=189, 64.19%). The minimal follow up was 6 months with a mean of 15.10 ± 5.4 months. Mean mayo wrist scores were 95 ± 4, 80 ± 7.4, 75 ± 7.4, and 70 ± 6.9, for stable metaphyseal fractures, unstable metaphyseal radial, stable radiocarpal fractures and unstable radiocarpal fractures, respectively. The overall mean mayo wrist functional score was 80.58 ± 12.3 (good results) at final follow up. CONCLUSIONS: Various modalities of treatment used differentially in different types of DRFs based on the Barzullah Working Classification give good results in spite of conflicting literature.

Long term results in refractory tennis elbow using autologous blood.

Tennis elbow (TE) is one of the commonest myotendinosis. Different treatment options are available and autologous blood injection has emerged as the one of the acceptable modalities of treatment. Long term studies over a larger group of patients are however lacking. The purpose of this study was to evaluate these patients on longer durations. One-hundred and twenty patients of TE, who failed to respond to conventional treatment including local steroid injections were taken up for this prospective study over the period from year 2005 to 2011 and were followed up for the minimum of 3 years (range 3-9 years). Two mL of autologous blood was taken from the ipsilateral limb and injected into the lateral epicondyle. The effectiveness of the procedure was assessed by Pain Rating Sscale and Nirschl Staging, which was monitored before the procedure, at first week, monthly for first three months, at 6 months and then 3 monthly for first year, six monthly for next 2 years and then yearly. Statistical analysis was done and a P value of <0.05 was taken as significant. The patients (76 females and 44 males) were evaluated after procedure. The mean age group was 40.67±8.21. The mean follow up was 5.7±1.72 (range 3 to 9 years). The mean pain score and Nirschl stage before the procedure was 3.3±0.9 and 6.2±0.82 respectively. At final follow up the pain score and Nirschl were 1.1±0.9 and 1.5±0.91 respectively. Autologous blood injection was found to be one of the modalities for treatment of TE. Being cheap, available and easy method of treatment, it should be considered as a treatment modality before opting for the surgery. Universal guidelines for the management of tennis elbow should be made as there is lot of controversy regarding the treatment.

Atlas and axis injuries role of Halovest.

BACKGROUND: The literature regarding the different patterns of atlas and axis injuries and their appropriate management and the progressive development in the management of these injuries is scarce from our world, so we presenting here our experience of management of these injuries by applying Halovest. MATERIALS AND METHODS: Thirty patients (22 males, 8 females) with atlas and axis injuries were treated and then followed-up for an average of 24 months. The data was analysed with respect to type of injury and use of Halovest in the treatment of these injuries. The patients with neuro defecit were scored as per ASIA grading scale (from Grade A to Grade E). RESULTS: The halo-vest immobilization was used for a mean period of 12 ± 3weeks (range 9 to 15 weeks) for atlas and axis injuries. Four patients had neurodeficit. Two patients recovered from ASIA Grade C to ASIA Grade D. One patient improved from ASIA grade D to ASIA grade E while as one patient with neurodeficit was lost to follow up. No death or worsening of the neurodeficit was observed during the follow up period. CONCLUSION: The clinical as well as radiological outcome of these injuries is mostly satisfactory with the conservative management using Halovest. More studies should be conducted to form the guidelines regarding patient selection for conservative management using halovest.

Localising rectus muscle insertions using high frequency wide-field ultrasound biomicroscopy.

AIM: The ultrasound biomicroscope (UBM) can accurately locate an extraocular muscle (EOM) insertion. The authors compared the accuracy of the Sonomed UBM (SUBM), a new 'wide-field ultrasound biomicroscope', with the older model Humphrey UBM (HUBM) in localising EOM insertions and compared their ranges of detection of muscle insertions. METHODS: Prospective, double-masked, observational study of 27 patients undergoing primary (n=40 muscles) or repeat (n=10 muscles) horizontal or vertical rectus muscle surgery. EOM insertional distances were measured with SUBM, and then intraoperatively with callipers. A Bland-Altman analysis and intraclass correlation coefficient were used to compare the SUBM and surgical data. RESULTS: For all muscles, the differences between SUBM and surgery measurements were less than 1.0 mm. The mean of the SUBM insertion distances was 6.67 mm (SD 1.65 mm) versus 6.7 mm (SD 1.6 mm) at surgery. The intraclass correlation coefficient showed 'excellent' correlation between the two sets of data and was higher than that reported with HUBM. The image quality with the SUBM was superior to the HUBM, and its range of field was much larger (14×18 mm vs 5×6 mm). CONCLUSION: The SUBM with its smaller, more manoeuvrable probe handpiece and a wider scanning field was more accurate in detecting muscle insertions compared with HUBM.