Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.

Leukocyte adhesion deficiency (LAD) syndrome is a group of inborn errors of immunity characterized by a defect in the cascade of the activation and adhesion leading to the failure of leukocyte to migrate to the site of tissue injury. Three different types of LAD have been described. The most common subtype is LAD type 1 (LAD1) caused due to defects in the ITGß2 gene. LAD type 2 (LAD2) is caused by mutations in the SLC35C1 gene leading to a generalized loss of expression of fucosylated glycans on the cell surface and LAD type 3 (LAD3) is caused by mutations in the FERMT3 gene resulting in platelet function defects along with immunodeficiency. There is a paucity of data available from India on LAD syndromes. The present study is a retrospective analysis of patients with LAD collated from 28 different centers across India. For LAD1, the diagnosis was based on clinical features and flow cytometric expression of CD18 on peripheral blood leukocytes and molecular confirmation by Sanger sequencing. For patients with LAD3 diagnosis was largely based on clinical manifestations and identification of the pathogenic mutation in the FERMT3 gene by next-generation Sequencing. Of the total 132 cases diagnosed with LAD, 127 were LAD1 and 5 were LAD3. The majority of our patients (83%) had CD18 expression less than 2% on neutrophils (LAD1°) and presented within the first three months of life with omphalitis, skin and soft tissue infections, delayed umbilical cord detachment, otitis media, and sepsis. The patients with CD18 expression of more than 30% (LAD1+) presented later in life with skin ulcers being the commonest manifestation. Bleeding manifestations were common in patients with LAD3. Persistent neutrophilic leukocytosis was the characteristic finding in all patients. 35 novel mutations were detected in the ITGß2 gene, and 4 novel mutations were detected in the FERMT3 gene. The study thus presents one of the largest cohorts of patients from India with LAD, focusing on clinical features, immunological characteristics, and molecular spectrum.

Evaluation of Efficacy of Bone Scan With SPECT/CT in the Management of Low Back Pain: A Study Supported by Differential Diagnostic Local Anesthetic Blocks.

INTRODUCTION: Conventional radiologic modalities provide details only about the anatomic aspect of the various structures of the spine. Frequently the structures that show abnormal morphology may not be the cause of low back pain (LBP). Functional imaging in the form of bone scan along with single photon emission computerized tomography (SPECT/CT) may be helpful in identifying structures causing pain, whether morphologically normal or not. The objective of this study is to evaluate the role of bone scan with SPECT/CT in management of patients with LBP. METHODS: This is randomized double-blinded controlled study performed on 80 patients with LBP aged 20 to 80 years, ASA physical status I to III. Patients were randomized into bone scan and control groups consisting of 40 patients each. On the basis of the clinical features and radiologic findings a clinical diagnosis was made. After making a clinical diagnosis, the patients in bone scan group were subjected to bone scan with SPECT/CT. On the basis of the finding of the bone scan and SPECT/CT, a new working diagnosis was made and intervention was performed according to the new working diagnosis. Diagnostic blocks in the control group were given based on clinical diagnosis. Controlled comparative diagnostic blocks were performed with local anesthetic. The pain score just after the diagnostic block and at the time of discharge (approximately 4 h later) was recorded; the pain relief was recorded in percentage. RESULTS: In both the groups, sacroilitis was the most common diagnosis followed by facet joint arthropathy. The number of patients obtaining pain relief of >50% was significantly higher in the bone scan-positive group as compared with the control group. Three new clinical conditions were identified in the bone scan group. These conditions were multiple myeloma, avascular necrosis of the femoral head, and ankylosing spondylitis. CONCLUSIONS: Bone scan with SPECT/CT was found to complement the clinical workup of patients with LBP. Inclusion of bone scan with SPECT/CT in LBP management protocol can help in making a correct diagnosis. At times it might bring out some new information that may be vital for further management of the patients with LBP.

Serratus anterior plane block: a new analgesic technique for post-thoracotomy pain.

Pain following thoracotomy is of moderate to severe nature. Management of thoracotomy pain is a challenging task. Post thoracotomy pain has acute effects in the post operative period by affecting respiratory mechanics, which increases the morbidity. Poorly controlled thoracotomy pain in the acute phase may also lead to the development of a chronic pain syndrome. A young male patient underwent esophagectomy and esophago-gastric anastomosis for corrosive stricture of the esophagus. Epidural analgesia is standard of care for patients undergoing thoracotomy. Due to hypotension and fluid losses following surgery, he was maintained on intravenous sedato-analgesia during postoperative mechanical ventilation. The thoracic epidural catheter which was placed pre-operatively, had developed blockage during the hospital stay. However, during weaning from ventilation and sedation, he indicated severe pain in the thoracotomy incision. The pain was severe enough to impair tidal breathing. We wanted to evaluate the efficacy of the serratus anterior plane block in the management of thoracotomy pain. The usefulness of this block has been discussed in the management of pain of rib fractures and breast surgeries. Despite the hypothesis of its usefulness in causing anaesthesia of the hemithorax, there are no available reports of clinical use for pain relief following thoracotomy. We performed the serratus anterior place block under ultrasound guidance and placed a catheter for continuous infusion of local anaesthetic and opioid. The patient had significant pain relief following a single bolus of the drug. The infusion was started thereafter, which provided excellent analgesia and facilitated an uneventful recovery. Here, we describe the successful management of thoracotomy pain using the serratus anterior plane block.

Evaluation of the Efficacy of Methylprednisolone, Etoricoxib and a Combination of the Two Substances to Attenuate Postoperative Pain and PONV in Patients Undergoing Laparoscopic Cholecystectomy: A Prospective, Randomized, Placebo-controlled Trial.

BACKGROUND: Establishment of laparoscopic cholecystectomy as an outpatient procedure has accentuated the clinical importance of reducing early postoperative pain, as well as postoperative nausea and vomiting (PONV). We therefore planned to evaluate the role of a multimodal approach in attenuating these problems. METHODS: One hundred and twenty adult patients of ASA physical status I and II and undergoing elective laparoscopic cholecystectomy were included in this prospective, randomized, placebo-controlled study. Patients were divided into four groups of 30 each to receive methylprednisolone 125 mg intravenously or etoricoxib 120 mg orally or a combination of methylprednisolone 125 mg intravenously and etoricoxib 120 mg orally or a placebo 1 hr prior to surgery. Patients were observed for postoperative pain, fentanyl consumption, PONV, fatigue and sedation, and respiratory depression. Results were analyzed by the ANOVA, a Chi square test, the Mann Whitney U test and by Fisher's exact test. P values of less than 0.05 were considered to be significant. RESULTS: Postoperative pain and fentanyl consumption were significantly reduced by methylprednisolone, etoricoxib and their combination when compared with placebo (P<0.05). The methylprednisolone + etoricoxib combination caused a significant reduction in postoperative pain and fentanyl consumption as compared to methylprednisolone or etoricoxib alone (P<0.05); however, there was no significant difference between the methylprednisolone and etoricoxib groups (P>0.05). The methylprednisolone and methylprednisolone + etoricoxib combination significantly reduced the incidence and severity of PONV and fatigue as well as the total number of patients requiring an antiemetic treatment compared to the placebo and etoricoxib (P<0.05). CONCLUSIONS: A preoperative single-dose administration of a combination of methylprednisolone and etoricoxib reduces postoperative pain along with fentanyl consumption, PONV, antiemetic requirements and fatigue more effectively than methylprednisolone or etoricoxib alone or a placebo.

Arthritis in lymphomatoid granulomatosis: report of a case and review of literature.

Lymphomatoid granulomatosis (LG) is a rare systemic vasculitis caused by Epstein Barr virus induced transformation of the B-cells in a T-cell rich environment. The predominant clinical presentations are confined to the pulmonary system however; extra-pulmonary manifestations can sometimes be the main feature of the disease. Here in we describe a 52-year-old female who presented with symmetric polyarthritis and generalized stiffness for 7 months and papular lesions over extremities for 3 months duration. She in addition had generalized lymphadenopathy. Histopathological examination of the cutaneous lesions confirmed LG. Patient died despite therapy with cyclophosphamide and prednisolone. This is the first report of LG mimicking rheumatoid arthritis from India.

Outcome in juvenile dermatomyositis.

The clinical features, outcome and complications of juvenile dermatomyositis were studied in a tertiary care hospital by retrospective analysis of case records. Nineteen patients were treated over an 11-year period. Median age at diagnosis was 12 years (2.5-16 years). Median duration of disease prior to diagnosis was 12 months (2-96 months). Proximal muscle weakness was seen in all 19 cases, neck muscle weakness in 14, pharyngeal muscle involvement in 5 and respiratory muscle involvement in 3 cases. Heliotrope rash was seen in 9 and Gottrons rash in 8 patients. Myocarditis and GI bleed were seen in 1 each while interstitial lung disease was seen in 2 patients. All except one patient received prednisolone. Methotrexate was used in 13 and azathioprine in 3 patients. Eight patients are in complete remission (CR), 8 partial remission and 2 patients had no response. Complications were calcinosis in 5, contractures in 2, TB in 4 and pyogenic infections in 4 patients. Juvenile dermatomyositis needs to be recognised early and treated aggressively to improve outcome.