Quantitative Analysis of Barriers to Clubfoot Treatment Experienced at a Tertiary Care Institute in India.

INTRODUCTION: The Ponseti method of treating clubfeet is considered the gold standard. However, there are specific barriers to implementing the Ponseti method for clubfoot treatment, especially in developing countries like India. METHODS: This is a retrospective study on patients who underwent the Ponseti method for clubfoot treatment at a tertiary care hospital in India. A total of 110 patients were enrolled for this study and were interviewed at the initiation of treatment and at each follow-up to identify the barriers, and their correlation to dropout rate was analyzed. RESULTS: On applying binary logistic regression, which shows the cumulative effect of all variables, the effect of the parent accompanying the patient was significant on compliance and dropout rate. CONCLUSION: Informed parents play a significant role in compliance with the treatment. The study results can help formulate an action plan to improve adherence to the Ponseti method for treating clubfoot throughout India and other developing countries.

Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India.

BACKGROUND: Obesity, especially early onset of obesity is a serious health concern in both developed and developing countries. This is further associated with serious comorbidities like a fatty liver disease, cardiovascular diseases, type-2 diabetes, obstructive sleep apnea, renal complications and respiratory problems. Many times early onset of obesity is linked with heritable monogenic, polygenic and syndromic forms. Globally, studies on roles of genes involved in early onset of obesity are limited. METHODS: Here in this study, a consanguineous family of Western Indian origin having four siblings, one unaffected and three affected with severe early onset of obesity was enrolled. Affected siblings also displayed comorbidities like mild to moderate obstructive sleep apnea, raised Renal Resistance Index, oliguria, and severe anemia. Whole Exome Sequencing (WES) of Trio with one affected and unaffected sibling was done. Data analysis was performed to check pathogenic mutation segregation in unaffected parents with affected and unaffected sibling. RESULTS: WES of trio identified novel frameshift mutation in the LEPR gene resulting in truncated leptin receptor (LEPR). The same mutation was confirmed in other affected siblings and two siblings of distant relatives by Sanger sequencing. The possible effects of truncating mutation in LEPR function by in silico analysis were also studied. CONCLUSION: Understanding genetic basis of obesity might provide a clue for better management and treatment in times to come. This work demonstrates identification of novel mutation in LEPR gene resulting into early onset of obesity. Discovery of novel, population-specific genomics markers will help population screening programs in creating base for possible therapeutic applications and prevention of this disease for next generations.

Qualitative Grading as a Tool in the Management of Multilevel Lumbar Spine Stenosis.

STUDY DESIGN: This is a prospective study that was undertaken at a single centre and involved 80 consecutive patients diagnosed with lumbar spinal stenosis (LSS). PURPOSE: The aim of the study was to assess the efficacy of a qualitative grading system as seen on magnetic resonance imaging (MRI) as a tool in the management of multilevel LSS. OVERVIEW OF LITERATURE: LSS diagnosis is clinical but is usually radiologically supplemented. However, there are often multilevel radiological findings with non-specific or atypical clinical features. We used a qualitative grading system to help in the decision-making process of the management of patients with multilevel LSS. METHODS: 80 patients with LSS were treated with decompression and prospectively followed-up for a minimum of 12 months. All had failed conservative treatment. Qualitative grading of LSS severity was based on the dural sac in T2 weighted axial MRI images at all disc levels and was done from L1-2 to L5-S1 (n=400). Functional outcome was assessed using the Oswestry disability index (ODI). RESULTS: The mean patient age was 56.6 years, with a gender ratio of 0.6:1. Forty patients had degenerative LSS and 40 had degenerative spondylolysthesis. A total of 178 levels were decompressed, the majority of which were L4-L5 (43.82%), followed by L5-S1 (41.57%). According to our qualitative grading system, grade D stenosis (53.93%) was decompressed most frequently, followed by grade C stenosis (41.57%). The average preoperative ODI score was 58.55%, which later reduced to 19.15%. Seventy percent of patients achieved excellent results, whereas 30% achieved good results. CONCLUSIONS: Morphological grading is a useful tool in decision making in surgery for multilevel LSS. Grade C and D stenosis should be decompressed, whereas A and B should not be, unless clinically justified.

Arthroscopic management of mucoid degeneration of anterior cruciate ligament.

BACKGROUND: Mucoid degeneration of the anterior cruciate ligament (ACL) is a less understood entity. The purpose of this study was to diagnose mucoid degeneration of anterior cruciate ligament and to assess the effectiveness of arthroscopic treatment in these patients. MATERIALS AND METHODS: Between December 2007 and November 2011, 20 patients were diagnosed to be suffering from mucoid degeneration of anterior cruciate ligament (ACL) on the basis of magnetic resonance imaging (MRI), histopathology, and arthroscopy findings. 12 patients were males and 8 patients were females, with mean age of 42.2 years for males (range 28-52 years) and 39.4 years for females (range 30-54 years). They presented with pain on terminal extension (n=10) and on terminal flexion (n=2) without history of significant preceding trauma. MRI showed an increased signal in the substance of the ACL both in the T1- and T2-weighted images, with a mass-like configuration that was reported as a partial or complete tear of the ACL by the radiologist. At arthroscopy, the ACL was homogenous, bulbous, hypertrophied, and taut, occupying the entire intercondylar notch. A debulking of the ACL was performed by a judicious excision of the degenerated mucoid tissue, taking care to leave behind as much of the intact ACL as possible. Releasing it and performing a notchplasty treated impingement of the ACL to the roof and lateral wall. In one patient, we had to replace ACL due to insufficient tissue left behind to support the knee. RESULTS: Good to excellent pain relief on terminal flexion-extension was obtained in 19 of 20 knees. The extension deficit was normalized in all knees. Lachman and anterior drawer test showed a firm endpoint in all, and 85% (n=17) showed good to excellent subjective satisfaction. CONCLUSIONS: Mucoid hypertrophy of the ACL should be suspected in elderly persons presenting pain on terminal extension or flexion without preceding trauma, especially when there is no associated meniscal lesion or ligamentous insufficiency. They respond well to a judicious arthroscopic release of the ACL with notchplasty.

Thoracolumbar burst fracture with complete paraplegia: rationale for second-stage anterior decompression and fusion regarding functional outcome.

BACKGROUND: Appropriate management of thoracolumbar injury with complete paraplegia remains controversial. Purpose of present study is to study whether advantages are worth the morbidity associated with staged anterior decompression in these patients. MATERIALS AND METHODS: Forty patients (90% male) with fracture of T12 (32 cases) and L1 (8 cases) with complete paraplegia underwent transpedicular fixation. Average age of patients was 42 years (range 13-57 years). Most common fracture pattern was type A3.1 (55%). Rational staged anterior decompression was done in 20 cases. One group received transpedicular fixation (n = 20) and another fixation and staged decompression (n = 20). Average follow-up was 2.5 years. RESULTS: Mean functional independence measurement (FIM) score was 98 in fixation group and 112 in decompression group; mean neurological recovery as measured by American Spinal Injury Association (ASIA) grade was 1.3 and 1.75, respectively. Incidence of postoperative complications was 20% and 60%, respectively. Sphincter control did not recover in either group. CONCLUSIONS: Rehabilitation is better after staged anterior decompression and fusion in burst fracture of thoracolumbar junction with complete paraplegia.

Spinal hydatid disease: a case series.

BACKGROUND: Over the past 10 years, 4 cases of spinal hydatid disease (3 men, 1 woman) were diagnosed and treated at our institution, with an average follow-up of 4 years. Hydatid disease of the spine is a rare condition with a poor prognosis that presents diagnostic and therapeutic challenges. METHODS: The patients were evaluated clinically, using the latest imaging modalities available in our institution. Decompressive surgeries were performed and the diagnosis was confirmed by histopathologic examination. All patients received long-term antihelminthic therapy with 400 mg of albendazole 3 times daily for 1 year. RESULTS: After surgery, all patients improved; however, over time, recurrence and residual disease were observed. Two patients had complete neurologic recovery at follow-up at 2 to 3 years, although there were radiographic signs of recurrence. The other 2 patients did not achieve complete neurologic recovery despite anterior decompression; they developed recurrent disease and the neurologic status deteriorated to spastic paraplegia. All patients refused further surgeries for recurrences and 2 patients died of complications of paraplegia. CONCLUSION: Diagnosis was challenging, eradication was difficult, and hydatid disease recurred in all 4 patients. In our experience, morbidity and mortality were high and prognosis was poor.