Seckel Syndrome is a rare genetic disorder which causes morphological changes throughout the body. Some of the most commonly reported changes are those present within the cranium and mandible such as microcephaly, a beak-like nose with convex nasal ridge, and mandibular deformities such as micrognathia. However, these clinical terms provide insufficient information to allow for proper diagnosis or to understand the distortions in physiology that take place with the disease. Therefore, quantification of the features of the skull are necessary to further explain this pathology, and comparisons to normal variation will help to understand the degree to which the anatomy is affected. Seckel Syndrome is classified as a member of the microcephaly family of pathologies; however, our results demonstrate that the overall volume of the skull is not as significantly decreased as the cranial vault itself, which may provide the catalyst for Chiari Type I malformations. The mandible, likewise, is severely altered by Seckel Syndrome decreases in approximately 44% of its volume and demonstrating altered physical proportions. Finally, the osteological measurements of the facial features demonstrated inconsistent findings between different anatomical structures providing evidence that Seckel Syndrome may have a variable effect on the different bones and tissues of the skull.
Detection of SARS-CoV-2 by real time Reverse Transcriptase-Polymerase Chain Reaction assay in pleural effusion
SARS-CoV-2 (severe acute respiratory syndrome-coronavirus-2) is a novel coronavirus identified for the first time in Wuhan (China) in 2019, responsible of the current pandemic infection known as Coronavirus-19 disease (COVID-19). Wide range of clinical presentation of COVD -19 has been observed, from asymptomatic carriers to ARDS. The common signs and symptoms of SARS-CoV-2 infection include fever, fatigue, dry cough, and dyspnoea; the severity of the disease is due to the impairment of the respiratory function. The radiological findings include a large variety of lesions; bilateral interstitial pneumonia is the most concerning presentation of COVID-19. Pleural involvement has been described in a minority of cases: pleural thickening had been observed in 32% of cases whereas pleural effusion is uncommon being described in only 5%. Furthermore, pleural involvement has been significantly associated with a worse prognosis. Coronavirus 2 (SARS-CoV-2), beyond the nasopharyngeal swab, has been detected in other samples; up to now, data about RT-PCR specific results in the pleural fluid of patients suffering from coronavirus disease 2019 5 (COVID-19) are very limited. The current gold standard for diagnosis is nucleic acid detection by real time Reverse Transcriptase-Polymerase Chain Reaction (RT-PCR) in nasopharyngeal swab. In this report, a case of a positive RT-PCR for Sars-Cov-2 in the pleura fluid and in the naso- pharyngeal swab of a patient affected by bilateral interstitial pneumonia and severe respiratory failure is described. As the presence of SARS-Cov-2 in the pleural fluid seems to be associated to a poor prognosis, physicians should carry out the specific RT-PCR assay both in the nasopharyngeal swab and in the pleural sample also when the fluid amount is very scarce and not recognizable in the chest X ray. Furthermore, the analysis of multiple samples allows to increase the test reliability.
Laser in-situ keratomieleusis (LASIK) is a common intervention for young, active, ametropic individuals to improve their visual acuity. pseudo-accommodative cornea (PAC), a variant of LASIK, to correct ametropia among presbyopic patients is proven in maintaining good distant vision; yet, the satisfactory spectacle free reading vision is limited to the ageing progression. However, successful treatments do not guarantee patient’s satisfaction. Assesment of the objective topographic indicators, visual acuity, higher order abrasion, and contrast sensitivity; revealed the clarification of a mild headache as a personal subjective experience after the treatment. The role of the persistent, dominant eye, the brain perception, seems to be critical factor to a patient’s satisfaction. To a certain degree, the interplay amongst the optical part and it’s supporting tissue, within and between the eyeballs, as well as its relationship to the neurosensory parts of the visual systems after Lasik surgery have not yet been assessed and reported elsewhere.
A rare case of adult ileo-colic intussusception: Hamartomatous polyp as a lead point with concurrent appendiceal neurofibroma in Neurofibromatosis Type 1
Intussusception is a rare cause of adult intestinal obstruction and unlike in children, adult intussusception is commonly caused by a lead point, requiring surgical intervention in most cases. Hamartomatous polyp is a non-neoplastic growth of tissue containing mature cells, distributed in an abnormal manner. It is often associated with intestinal polyposis syndromes such as Peutz-Jeghers syndrome and Juvenile polyposis. In the current case, we report an extremely rare case of ileo-colic intussusception secondary to a lead point of an isolated ileal hamartomatous polyp in an elderly gentleman with Neurofibromatosis type-1. Patient was successfully treated with ileo-colic resection involving the intussuscepted segment of bowel. There was an incidental finding of a nodule in the appendix and the histology confirmed this as a neurofibroma. Post-operative recovery of the patient was unremarkable.
Introduction: Intramucosal esophageal dissection (IED) is an uncommon disorder, described as the separation of the mucosa and/or submucosa from deeper muscular layers due to abrupt increase in intraesophageal pressure. Case presentation: The first case il that of a 52 – years old female patient who underwent an esophagogastroduodenoscopy for control. After the procedure an extensive subcutaneous emphysema of the neck and a massive pneumomediastinum occurred. The patient was successfully treated with a conservative approach. The second case is that of a 43-years old male patient affected by Down’s Syndrome, who underwent an esopagogastroduodenoscopy because of persisting dysphagia. The endoscopic showed the presence of a serrated stricture at 20 centimeters from dental arcade. After the procedure he fell dysphagia. A neck-chest TC-SCAN showed superior and posterior pneumomediastinum and subcutaneous emphysema, without signs of mediastinitis. The patient was successfully treated with conservative approach. After a few days, a new chest CT-SCAN showed the presence of an anomalous right subclavian artery arising from the descending part of the aortic arch, causing dysphagia lusoria. Discussion: The causes of IED include iatrogenic instrumentation, hemostatic applications, mucosal injuries from ingestion of sharp foreign body, or spontaneous. A fluoroscopic upper gastrointestinal series or upper gastrointestinal endoscopy has been widely used to diagnose IED. CT and magnetic resonance are useful for differential diagnosis. In the absence of signs of mediastinitis management is conservative. Conclusion: CT SCAN should be the first exam to perform in the suspicion of IED. The first line treatment should be conservative. In case of the onset of complications and in patients who are refractory to conservative management, endoscopic or surgical treatment are indicated.
Paget´s disease of bone is a disorder characterized by disorganized bone remodeling. It´s occurrence in patients with end-stage kidney disease on renal replacement therapy is rare. Here we report a case of Paget´s disease of bone in an 80-year-old male on peritoneal dialysis that presented a high level of alkaline-phosphatase with a mildly elevated parathyroid hormone level and typical imaging findings localized to the pelvis. This is the fourth reported case of Paget´s disease in a patient on peritoneal dialysis and the first treated with denosumab.
This is a case of upper limb deep vein thrombosis in a HIV positive patient who had also been diagnosed of Non-Hodgkins Lymphoma. This case highlights the importance of thromboprophylaxis and thrombotic risk assessment in all HIV positive as well as cancer patients particularly in low resource setting which are at risk of increased morbidity and mortality.
We report the case of a 69 year old female who presented with mild cognitive impairment and difficulty mobilising in the setting of profound hypothyroidism secondary to Hashimoto’s thyroiditis with associated elevated creatine kinase (CK), hyponatraemia, anaemia, renal impairment, hypercholesterolaemia and hypertryglyceridaemia. On initial investigations the patient had a thyroid stimulating hormone (TSH) of 49 mU/L, free T4
Isolated Aortitis with multiple Aortic aneurysms and widespread venous, arterial and intracardiac thrombosis: A challenging Vascular Behcet’s Disease case management
In 1937, Hulusi Behcet’s brought to our attention the existence of a disease characterized by recurrent oral aphthae and any of several systemic manifestations including genital aphthae, ocular disease, skin lesions, gastrointestinal involvement, neurologic disease, vascular disease, or arthritis [1-3]. He became the first physician to describe this and the disease was henceforth named after his name. The aetiology of this disease remains unclear however it has been noticed that Behcet’s syndrome is remarkable for its systemic vasculitides which include its ability to involve blood vessels of all sizes (small, medium, and large) on both the arterial and venous sides of the circulation with occlusive nature . This makes Vasculitis the major cause of the clinical manifestations of the disease with the involvement of almost any organ. We herein report an unusual case of a thirty-year-old Syrian man with no past medical illnesses. On presentation, he suffered from a sudden onset of shortness of breath and a history of hoarseness of voice for less than a week, and drastic weight loss of about thirty kgs within a month. Imaging confirmed the presence of pulmonary embolism, bilateral deep venous thrombosis, intracardiac thrombosis, popliteal artery thrombosis with thoracic, and abdominal aortic aneurysms. This case highlights the importance of having a high suspicion of the possibility of Behcet’s disease when multiple thrombi and aneurysms manifest in a patient on the silk root country. Thereby, stressing the importance of familiarizing ourselves with such unusual presentations of Behcet’s disease and the course of this unusual presentation with some learning points with a good literature review included below.
Autologous Tenocyte Implantation (ATI) and the Use of Collagen Scaffolds: a Case Report of a Novel Surgical Treatment for Gluteal Tendon Repair
Background: Ortho-biological therapies such as platelet-rich plasma and autologous tenocyte implantation injections are hypothesized to introduce cellular mediators such as growth factors into tendons, promoting natural healing. Methods: This case introduces a 63-year-old female with an extensive history of lateral hip pain and treatment refractory tendinopathy with tearing. She underwent open surgery to repair the gluteus medius tendon, using supplementary autologous tenocyte implantation (ATI) in conjunction with a Celgro (Orthocell, Perth, Australia) collagen scaffold. Level of evidence: 4 Results: She had normal function in the hip at 12 months. MRI scans post-operatively at 12 months showed a marked reduction in inflammation, an intact tendon and a reduction in atrophic changes in the muscle belly. Conclusion: Surgical repair of a large degenerate tear of the gluteus medius tendon, augmented with autologous tenocyte implantation in a collagen scaffold led to an excellent patient outcome and MRI findings demonstrated tendon healing with improved tendon structure and reduced inflammation.