Sampath Kumar

Epigenotype–phenotype correlations in Silver–Russell syndrome

Background Silver–Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are found in 5–10% and up to 60% of patients with SRS, respectively. As many features are non-specific, diagnosis of SRS remains difficult. Studies of patients in whom the molecular diagnosis is confirmed therefore provide valuable clinical information on the condition. Methods A detailed, prospective study of 64 patients with mUPD7 (n=20) or ICR1 hypomethylation (n=44) was undertaken. Results and conclusions The considerable overlap in clinical phenotype makes it difficult to distinguish these two molecular subgroups reliably. ICR1 hypomethylation was more likely to be scored as ‘classical’ SRS. Asymmetry, fifth finger clinodactyly and congenital anomalies were more commonly seen with ICR1 hypomethylation, whereas learning difficulties and referral for speech therapy were more likely with mUPD7. Myoclonus-dystonia has been reported previously in one mUPD7 patient. The authors report mild movement disorders in three further cases. No correlation was found between clinical severity and level of ICR1 hypomethylation. Use of assisted reproductive technology in association with ICR1 hypomethylation seems increased compared with the general population. ICR1 hypomethylation was also observed in affected siblings, although recurrence risk remains low in the majority of cases. Overall, a wide range of severity was observed, particularly with ICR1 hypomethylation. A low threshold for investigation of patients with features suggestive, but not typical, of SRS is therefore recommended.

Improving Visibility of Stereo-Radiographic Spine Reconstruction with Geometric Inferences.

Complex deformities of the spine, like scoliosis, are evaluated more precisely using stereo-radiographic 3D reconstruction techniques. Primarily, it uses six stereo-corresponding points available on the vertebral body for the 3D reconstruction of each vertebra. The wireframe structure obtained in this process has poor visualization, hence difficult to diagnose. In this paper, a novel method is proposed to improve the visibility of this wireframe structure using a deformation of a generic spine model in accordance with the 3D-reconstructed corresponding points. Then, the geometric inferences like vertebral orientations are automatically extracted from the radiographs to improve the visibility of the 3D model. Biplanar radiographs are acquired from five scoliotic subjects on a specifically designed calibration bench. The stereo-corresponding point reconstruction method is used to build six-point wireframe vertebral structures and thus the entire spine model. Using the 3D spine midline and automatically extracted vertebral orientation features, a more realistic 3D spine model is generated. To validate the method, the 3D spine model is back-projected on biplanar radiographs and the error difference is computed. Though, this difference is within the error limits available in the literature, the proposed work is simple and economical. The proposed method does not require more corresponding points and image features to improve the visibility of the model. Hence, it reduces the computational complexity. Expensive 3D digitizer and vertebral CT scan models are also excluded from this study. Thus, the visibility of stereo-corresponding point reconstruction is improved to obtain a low-cost spine model for a better diagnosis of spinal deformities.

Schwannoma of common bile duct causing obstructive jaundice

Benign schwannomas arise from neural crest-derived Schwann cells. Schwannomas occurring in the biliary tract become clinically symptomatic due to their compression on the extra hepatic biliary tract causing obstructive jaundice. Their preoperative diagnosis is extremely difficult. We report a 38-year-old male who presented with pain abdomen and jaundice. Computed tomography of abdomen showed extra luminal compression of common bile duct (CBD) possibly by a lymph nodal mass. Resection of the CBD, gall bladder and the mass compressing the CBD with Rouxen-Y hepaticojejunostomy was performed. The final histopathology was reported as a schwannoma.

Major abdominal surgery in a patient with a metallic heart valve—balancing risks of thromboembolic events and perioperative bleeding

Surgical patients with mechanical valves are challenging, as their need for anticoagulation to reduce thromboembolic events is weighed against the risk for postoperative hemorrhage. Timing and bridging method for anticoagulation presents a great challenge for the surgeon. There is no protocol and consensus to our knowledge of managing acute major abdominal surgery in patients with metallic valves. We share our experience and review the current literature on this topic.

Unique presentation of a ruptured Meckel’s diverticulum after blunt trauma

A 25-year-old man with no significant medical or surgical history presented with a complaint of thick, dark drainage from a periumbilical wound for 1 month (figure 1). He reported first noticing the drainage several days after bumping into the corner of a machine at work. He was seen by his primary care physician and prescribed oral antibiotics for persistent drainage and erythema; however, his symptoms failed to improve. Figure 1 Chronic umbilical wound sustained after blunt abdominal trauma, with drainage of a thick, dark fluid for 1 month. On presentation to the emergency department, the patient was afebrile and haemodynamically stable. Lab work was within normal limits. An abdominal CT scan demonstrated a loculated periumbilical fluid collection, with extension intraperitoneally into a portion of thickened small bowel with suspicion of an enterocutaneous fistula (figure 2). Figure 2 Loculated periumbilical fluid collection approximately 3.8×2.2×3.4 cm. An intraperitoneal portion …

Splenic abscess following laparoscopic cholecystectomy: a case report of a rare disease and a review of its management

Splenic abscess is a rare disease that has several predisposing factors. Case reports have documented post-surgical development of splenic abscesses, most commonly after laparoscopic sleeve gastrectomy. We present the case of a 69-year-old female with gallstone pancreatitis who underwent an uncomplicated laparoscopic cholecystectomy. The hospital course was complicated by persistent postoperative leukocytosis with a CT scan demonstrating a moderate sized splenic abscess. Interventional radiology was consulted for percutaneous drainage, and the patient was subsequently discharged home in stable condition. Splenic abscess is an important entity to remember as it is associated with significant mortality. Prompt treatment is vital for improving patient survival. Image guided percutaneous interventions have been increasing used and carry numerous benefits compared to surgical approaches. However, there is a paucity of data comparing the efficacy of percutaneous and surgical therapies. Percutaneous interventions can be successfully performed when the abscess is unilocular/bilocular, has a discrete wall, has no internal septations, or has thin liquid content. Further investigation through multicenter, prospective, randomized clinical trials are needed to analyze treatment options.

Effect of Physical Activity Intervention in Prediabetes: A Systematic Review With Meta-analysis

BACKGROUND Prediabetes is a strong risk factor for the development of Type2 Diabetes Mellitus (T2DM). Modification in lifestyle plays an important role to avoid the prognosis of T2DM and its complications in future. The aim of our study was to focus on the effectiveness of physical activity (PA) intervention program on different outcome measures in individuals with prediabetes. The effort of the present review was to contribute to the existing literature by strengthening the evidence pointing toward the positive impact of physical activity in individuals with prediabetes. METHODS Studies have been identified through database like PubMed, Scopus, and ProQuest. Randomized and nonrandomized controlled trials have been included. Nineteen articles have been selected for the qualitative analysis and 08 for meta-analysis. RESULTS PA intervention showed a favorable effect on improving oral glucose tolerance (Risk ratio [RR] -0.26, 95% CI -0.06 to 0.07) and fasting blood sugar (RR -0.05, 95% CI -0.14 to 0.04). It also showed the favorable effect on glycated hemoglobin (HbA1C), maximum oxygen uptake (VO2max), and body composition. CONCLUSION Present review suggests that the PA promotion and participation can help to slow down the progression of disease in individuals with prediabetes and thus reduces the morbidity and mortality associated with T2DM.

Non-traumatic pseudocyst of spleen presenting as chronic abdominal pain and vomiting

A 30-year-old woman presented with left upper abdominal pain for 6 months and recurrent vomiting for the past 1 week. There was no history of trauma. Abdominal examination did not reveal any significant findings. Ultrasound scan of the abdomen revealed cystic lesion in the spleen. Contrast-enhanced CT of the abdomen showed a large, well-capsulated cystic mass measuring 10.6×9.6 cm in the upper pole of the spleen (figure 1). The patient was immunised against Streptococcus pneumoniae , Haemophilus influenzae type B and Neisseria meningitidis 2 weeks before surgery. She underwent a splenectomy (figure 2) and histopathological …

Spontaneous rupture of splenic artery psuedoaneurysm into stomach: an uncommon presentation.

A young man with chronic calcific pancreatitis presented with passage of black tarry stool. He had haematemesis 2 days prior. Haemoglobin was 5 g/dL, haematocrit 15.6 with total leucocyte count 35 100 cells/µL. We suspected oesophageal variceal bleed. Endoultrasound showed 8.5×5.5×6 cm psuedocyst with echogenic areas and grade 1 oesophageal varices without bleeding. Diagnosis of acute on chronic pancreatitis with infected pseudocyst was made and the patient was transfused with blood and was treated conservatively. …