Early-Onset Epileptic Encephalopathy Responsive to Phenytoin: A Diagnostic Clue for Fibroblast Growth Factor 12 Mutation.

We present a case of a three-year-old girl with a rare genetic epilepsy with developmental delay. She was born to a non-consanguineous parentage and required resuscitation soon after delivery via cesarean section. The patient had her first seizure within 36 hours of life, which progressed into refractory epilepsy. She required multiple hospital admissions due to prolonged seizures. Despite being tried on multiple drug combinations over the years, she responded only to phenytoin. Basic imaging and other investigations, including genetic analysis, revealed a fibroblast growth factor 12 (FGF12) mutation. Mutations in these genes cause refractory early-onset seizures associated with severe developmental delay. Due to early and appropriate intervention with phenytoin, she had good seizure control which probably resulted in a better developmental outcome.

Incidental Finding of a Periampullary Neuroendocrine Tumor: A Case Report.

A 63-year-old male with multiple co-morbidities presented with a diabetic foot infection which was treated surgically. During admission to the hospital, he developed melena and underwent an endoscopic assessment which revealed an incidental finding of an ampullary mass. The histological analysis of the biopsy revealed ampullary carcinoma with mixed intestinal-type and pancreatobiliary-type features. A magnetic resonance imaging (MRI) of the liver with contrast presented the tumor as an ill-defined small soft tissue lesion measuring 8 x 9 mm in the ampullary region, with multiple lymph nodes in the periportal, peripancreatic, and para-aortic regions. There was no evidence of biliary obstruction. The patient underwent a Whipple procedure with no complications. The final histology report of the specimens taken stated that the tumor is predominantly in the duodenum and focally in the ampulla, and is a well-differentiated neuroendocrine tumor confirmed to be submucosal. The histopathologic and radiologic workup determined the pathological stage classification to be pT3N1, Mx G1.

Uncommon Finding of a Soft Palate Schwannoma: A Case Report.

Schwannomas are relatively slow-growing benign tumors of the nerve sheath. Approximately 25-40% of schwannomas occur in the head and neck region. However, schwannomas that present in the oral cavity are relatively rare, constituting around 1% of all described cases in the head and neck region. We report a case of a 20-year-old female who was found to have an intraoral palatal schwannoma. The patient presented with a painless swelling located on the right side of the soft palate. Investigations and management were commenced, and a computed tomography (CT) scan with contrast was done, which revealed cystic changes in a large soft palate mass lesion with a heterogeneous enhancement. The mass was surgically excised and sent for histopathological examination. The diagnosis of schwannoma was made due to the presence of the characteristic Antoni A and Antoni B areas. The immunohistochemical study done was positive for protein S-100. The postoperative follow-up went uneventful.

Effect of Pilates based exercises on symptomatic knee osteoarthritis: A Randomized Controlled Trial.

OBJECTIVE: To determine the effects of Pilates exercises on pain, knee range of motion and functional disability in women with knee osteoarthritis. METHODS: The double-blind randomised controlled trial was conducted at the National Orthopaedic Hospital, Bahawalpur, Pakistan, from April to September 2018, and comprised female patients with knee osteoarthritis. The subjects were selected and randomised into control group A receiving isometrics and intervention group B receiving Pilates exercises. Both groups received one-hour sessions 3 times per week for 8 weeks. The groups were assessed at baseline and at the end of the 8th week using numeric pain rating scale and Western Ontario and McMaster Universities osteoarthritis index for pain and functionality level respectively. Data was analysed using SPSS 23. RESULTS: Of 44 patients, there were 22(50%) in each of the two groups. Mean age of group B was 57.60±6.34 years, and it was 55.65±7.28 in group B. Mean body mass index of group B was 25.812±4.16, and it was 26.93±4.4 in group A. The study was completed by 40(91%) patients; 20(50%) in each of the two groups. Both groups showed significant improvement for pain, range of motion and physical function post-intervention (p<0.05). Group B showed significantly more improvement in terms of pain and physical function compared to group A (p<0.05). CONCLUSIONS: Pilates exercises were found to be more effective in the treatment of patients with knee osteoarthritis. TRIAL REGISTRATION NUMBER: Chi CTR 2000030486.

Clinical outcomes of maitland mobilization in patients with Myofascial Chronic Neck Pain: A randomized controlled trial.

BACKGROUND AND OBJECTIVE: Myofascial neck pain is a common musculoskeletal problem caused by presence of trigger points and local and referred pain patterns. Chronic neck pain is responsible for the involvement of joints, ligaments, fascia and connective tissue as well. The objective of this study was to assess the effect of Maitland mobilization in patients with myofascial chronic neck pain. METHODS: In this randomized, placebo treatment-controlled trial, 30 patients consecutively aged 25-45 years meeting inclusion criteria were isolated into two groups. The study group was treated with Maitland mobilization consistently for eight weeks while the control group got placebo treatment for a similar timeframe. Visual analog Scale (VAS), Neck disability index (NDI) and cervical range of motion (ROM) questionnaire was filled by patients before, intermediate and after the intervention to evaluate the severity of pain, functional ability and range of motion. RESULTS: Following eight weeks of treatment, when compared the post treatment effects of both groups, the significance value for VAS was 0.008, for NDI p=0.030, for Flexion p=0.573, for extension p=0.001, for right rotation p<0.001, for left rotation p=0.002, for right and left side bending p<0.001. CONCLUSION: The study concluded that Maitland mobilization grades (I-IV) are effective in reducing pain and improving functional level of NDI scale and the ranges of cervical spine in patients with myofascial chronic neck pain.