Labrune syndrome is a heterogeneous genetic disorder. Genetic studies may fail on detecting the SNORD118 mutations, even using exoma focusing on non coding proteins, suggesting that different mutations not yet discovered may cause the same phenotype. We used clinical, imaging, neuropathology and genetic testing.
Issue 7 (Jul)
A 60-year-old woman presented to A & E complaining of abdominal pain and coffee-ground-like vomit. Her past medical history included type 2 diabetes, hypertension and a conjunctival melanoma with gastric and right adnexal secondarisms. So, she underwent a laparotomy and bilateral adnexectomy the year before with no further cytoreduction because of its metastatic nature.
Osler-Weber-Rendu Syndrome (OWRS) also known as Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder that causes epistaxis, Arteriovenous Malformations (AVMs), and telangiectasias. While Gastrointestinal (GI) bleeding is a known and relatively common effect of OWRS, less common findings such as ischemic colitis have been reported.
Unusual presentation of metastatic adenocarcinoma colon involving proximal ureter: A rare case report
Distant metastases from colorectal cancer (CRC) most frequently spread to the liver and lungs. CRC metastasis to the ureter is extremely rare and may be generally associated with an unfavorable prognosis. We report 76 y male who presented with hematuria for 2 weeks associated with clots. On evaluation Contrast CT showed 2.4 x 3.4 x 3.3 cm heterogeneously enhancing lesion noted in the right proximal ureter.
Cryptococcosis is a mycotic disease, which mainly affects the lungs and can spread through the blood and involve the central nervous system. We present the case of a 39-year-old man, sent with a diagnosis of brain neoplasia. Patient was admitted to emergency room with headache, gradual loss of strength, and weight, and behavior changes, with distractibility and inattention.
A 21-year-old woman presented to our hospital Accident & Emergency department (A&E) with a 6-week history of vomiting, abdominal pain, constipation and weight loss (12 kg in 2 months). She had access to A&E for abdominal pain and vomiting twice in the previous month, but her Blood Tests (BT) were unremarkable and she was discharged home.
Fatal gastrointestinal perforation, refractory massive bleeding, and mucor infection in a 61-year-old woman due to Henoch-Schonlein purpura: A case report
Henoch-Schonlein purpura is a rare capillary inflammatory disease in adults, which can cause perforation and bleeding in the gastrointestinal tract, even threaten life. We report a case of a 61-year-old woman with fatal gastrointestinal, refractory massive bleeding, and mucor infection due to Henoch-Schonlein purpura. Underwent comprehensive treatment the patient recovered uneventfully after 6 months of follow-up.
Reservoir pouch calculi are the most common complication following continent urinary diversion. The presence of calculi in the neobladder can be silent or provoke flank pain, hematuria, and urinary tract infections. Minimal invasive interventions like endoscopic or percutaneous retrieval in smaller calculi to open surgical approaches in large calculi is some of the treatment modalities.
Geographic and population variation in coronary artery dimensions across Southern India: A multicentre cross sectional study
Ischemic Heart Diseases (IHD) among Asian Indian migrants in the western world are documented with high prevalence. We aimed to assess population specific variation in artery dimensions among normal and Single Vessel Disease (SVD) patients among four states of Southern India.
We report a case of a 17-year-old boy who presented with two-day progressive left testicular pain and an ultrasound finding of acute thrombosis of the left spermatic vein. Computed tomography and laboratory tests including tumor markers were normal. The patient was diagnosed as a heterozygous carrier of the Prothrombin G 20210A mutation. He completed a 3-month course of acenocoumarol.
A confirmation of ASXL1 as biological marker of normal cytogenetic acute myeloid leukemia with myelodysplasia-related changes (AML-MRC): A case successfully treated with CPX-351
We here report the case of a 56 yr old patient affected by acute myeloid leukemia with myelodisplasia related changes (AMLâ€MRC), ASXL1+, successfully transplanted after CPX-351 treatment. Prats-Martin et al. retrospective study identified clinical, cytomorphological, cytogenetic features associated with AMLâ€MRC ASXL1+ such as: higher leukocyte count at diagnosis (p=0.005).
This case presentation assesses one example of a patient suffering from Raynaudâ€™s phenomenon without having previously sought out medical intervention. This study focuses on the patientâ€™s perspective in hopes of providing insight to future providers in handling patient interactions for those suffering with the same disease.
Granulosa Cell Tumors (GCT) of ovary is a malignant tumor originating from sex cord stromal cells. It accounts for 2â€“5% of all ovarian cancers. The granulosa is classified separately in adult and juvenile pattern by clinical presentation and histologic characteristics. The Juvenile Type Granulosa Cell Tumor (JGCTs) are extremely rare.
The ophthalmic manifestations of Systemic Lupus Erythematosus (SLE) are protean, however, choroidopathy is rare. We present two SLE cases with choroidal involvement as the first manifestation, and relevant literatures are reviewed. Both ophthalmists and rheumatologists should be aware of choroidopathy as a rare manifestation of active SLE. Early recognition and proper treatment are important for good prognosis.
In recent years, many studies have shown the close relation of quality of life and depression to the compliance of patients with type 2 diabetes. The aim of the present study is to examine the relation between quality of life and depression to compliance with antidiabetic treatment. The effect of demographic profile in levels of depression, quality of life and compliance with antidiabetic treatment was examined as well.
A 57-year-old woman with a history of lobular carcinoma of the left breast (stage I, T1b-N0-M0, HER2/neu-negative; estrogen and progesterone receptor-positive) diagnosed 14 years ago, treated with modified radical mastectomy and tamoxifen, followed by surveillance for 5 years. She recently returned due to dysphagia, chest pain, hyporexia, nausea, vomiting, unintentional weight loss, and at 3 months later changes in bowel habits.
Innovative, minimally invasive and cost effective use of Ilizarov fixator in correction of a severe knee flexion deformity: A case report
Poliomyelitis is an infectious disease caused by the poliovirus, which is a member of the genus Enterovirus, belonging to the Picornaviridae family. Poliomyelitis is transmitted from a patient or a symptom-free carrier through the feco-oral route. The manifestations vary from asymptomatic to the most severe forms of debilitating paralysis.
Gastroparesis is a chronic disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the stomach. First-line treatment consists of an antiemetic agent with a pro-motility drug. However, in a 12-year prospective study by Jones et al., they found that symptoms of gastroparesis in diabetic patients often persisted despite adequate glycemic control and optimal medical management.
This case study highlights the surgical management of a 45 year old male, presenting with a significant degloving injury to the lower limb. Following initial debridement, the use of IntegraÂ® dermal regeneration template was used to reconstruct the residual soft tissue defect. The patient has had an excellent outcome with 100% graft take, good function of the limb with no associated lymphoedema.
A 68-year-old man presented to the hospital with lower limb edema and hematuria. Blood test and urine analysis revealed 5 g proteinuria with creatinine rise. According to laboratory findings and patient symptoms, the secondary assessments were performed including complement components C3, C4, and CH50, ANA, Anti-dsDNA, c-ANCA and p-ANCA, that all were negative.
Evaluation of phytochemical constituents and antimicrobial activities of ethyl acetate and butanol fractions of Periploca aphylla Decne
Plants have been utilized for the cure of different diseases since ancient times. Medicinal importance of the plants is due to presence of phytochemicals having specific physiological action on the human body. A wide variety of activities have been found in these phytochemicals which might help in preventing chronic disorders. Periploca aphylla Decne belongs to the family Asclepiadoideae, is traditionally used for the cure of cerebral fever and as stomachic.
Use of botulinum toxin type A associated with nonthermal microneedling for treating erythematoustelangiectatic rosacea: A case report
Treatments for rosacea control the pathology for a short period, requiring daily maintenance with topical and oral cosmetics. This research aimed to report the result of treatment of microneedling associated with botulinum toxin type A in a 37-years old female affected by erythematoustelangiectatic rosacea.
Since 31 December 2019 and as of week 2022-2, 328.558.243 cases of COVID-19 and 5.548.696 related deaths have been reported. In this context, a range of vaccines has been developed, showing high efficacy in preventing Coronavirus 2019 (COVID-19) disease, severe outcomes of infection, and mortality  and has been instrumental in mitigating also the transmission of SARS-CoV-2.
Whilst recanalised Paraumbilical Veins (PUVs) are common pathways for decompression in patients with portal hypertension, aneurysmal change is rare, with only a handful of previously reported cases. A 47-year-old man with cirrhosis and portal hypertension was found to have an asymptomatic, but rapidly enlarging PV aneurysm. This was successfully treated with embolisation and this is the first time that this has been described.
Decompressive craniectomy in severe traumatic brain injuries: Indications, outcomes and the usefulness of transcranial doppler
The place of transcranial Doppler in the management of all severe traumatic brain injury remains today important in therapeutic decision-making. The decompressive craniectomy for him remains a little controversial. In a prospective series of patients with severe TBI, we aimed to determine the usefulness of TCD and the outcomes of severe TBI treated with decompressive craniectomy in a low-resource setting.
Bottle opener technique for extraction of molars using cowhorn forceps: Redefining the principles of exodontias
A successful extraction is always satisfying to the clinician and to patient as well. The armamentarium for extraction has evolved from simple pliers to most modern forceps which we use today. The conventional technique to use cowhorn forceps for extraction is by gripping the forceps as apically as possible into the furcation of molars.
Heart failure is associated with clinically measurable markers such as B-type Natriuretic Peptide (BNP) and D-dimer levels. We did a brief literature review to assess the diagnostic accuracy of these biomarkers and their correlation. The significance of BNP and D-dimer as individual biomarkers is more reliable compared to their correlation as suggested by multiple research studies found in relevant databases.
Can gadolinium be used as an alternative to iodinated contrast for CT angiography during the current pandemic-related contrast shortage?
The Corona Virus (COVID-19) pandemic has brought profound disruptions to the health care systems globally. One of the serious consequences of the Covid-19 pandemic is a global scarcity of Iodinated Contrast Agents (ICA) due to the recent government-mandated lockdown in Shanghai, China. This halted the production of a water-soluble iodine contrast at a major General Electric factory (of the GE Healthcare subsidiary).
Lumps and bumps are relatively common presenting problems in the primary-care/general practice, and their differential diagnoses diverse with anatomical location. Clinical and imaging diagnosis of soft-tissue lumps are challenging at times, and require partial or total excision for diagnosis and management.
Iliac vein agenesis is a rare condition, which can lead to symptoms of CVI of lower limbs and to DVT. CTV, MRV and phlebography are effective methods on diagnosis. The treatment of these patients consists of anticoagulation in cases of DVT and venous grafts in cases of CVI. The patient is a 28-year-old female, with history of varicose veins in her face when she was a baby, varicose veins in lower limbs, edema and pain in adolescence.
A 50-year-old man with a history of thyroid papillary carcinoma surgically treated 20 years ago, and radio-iodine refractory micronodular lung metastasis, presented on follow up Fluorodeoxyglucose (FDG)-Positron Emission Tomography (PET) with a progressive hyper-metabolic right sacral soft tissue lesion with iliac bone involvement. Standard uptake value was 5.54.
Multiple Myeloma (MM) is a neoplastic proliferation of plasma cells involving mainly bone and bone marrow. However, extra-skeletal spread in the form of plasmacytomas is also very common, which usually manifests as localized extramedullary collection of malignant Plasma cells. This paper is a report on gastric involvement of plasma cell infiltration, also known as gastric plasmacytoma.
The Coronavirus Disease (COVID-19) pandemic is a natural disaster and its destructive effects will have serious long-term consequences for the economics and global health. This deadly disease is caused by infection with Severe Acute Respiratory Syndrome Corona Virus 2 (SARS-CoV-2) which belongs to the coronaviridae family.
Dengue fever is a dreaded arboviral infection of utmost global importance having 4 serotypes: DENV1, 2, 3, and 4. Dengue fever and severe dengue are the two clinical spectrums commonly classified. However, unusual or atypical manifestations are often overlooked causing significant fatality. This series of 6 case of dengue fever fill the lacunae of knowledge gaps.
A clinical trial on preventive effects of licorice on propranolol-related dizziness, a side-effect in patients with migraine headache
Forty patients (systolic blood pressure Ë‚120 mmHg) who received propranolol (prophylactic medicine) were subjected and divided into Licorice and placebo groups. Dizziness frequency and severity, systolic and diastolic blood pressure, and orthostatic hypotension were assessed after three months.
False localization signs or paradoxical neurological findings are a manifestation of indirect dysfunction at a neurological structure remote from the location of expected anatomical pathology. We present a case of an acute subdural hematoma that caused unexpected ipsilateral hemiparesis secondary to injury of the contralateral cerebral peduncle as a result of brain shift from this mass lesion.
62-year-old female, with a history of thyroidectomy for goiter surgery associated with left cervical lymphadenopathy five years ago. She presented a decrease in visual acuity at 6/10 in the right eye. Brain MRI revealed an intra-conical right orbital lesion process associated with a right frontal cerebral lesion process, three other osteolytic lesions of the cranial vault, lung metastases, and hepatic metastasis.
An unusual culprit lesion in acute coronary syndrome: In stent-restenosis of a subclavian artery stent
A 73-year old man with past medical history of coronary artery bypass grafting in 2012 and subclavian artery stenting in 2021 was scheduled for an ophthalmologic minor surgery requiring conscious sedation. During the surgery, he developed hemodynamic instability and shortness of breath requiring the conversion to general anesthesia with mechanical ventilation.
Cancer is the second cause of death through the world . Advance and curable cancer treatment are developing during recent years so number of cancer survivors are grown and risk of cardiovascular complications and death increase too. Radiation therapy is one of the most important curative treatment in more than fifty percent of cancer patients.
The patient is a 38-year-old female, with no known past medical or ocular history, who presented to the office with a complaint of a progressive decrease in vision of her left eye over the past several months. Uncorrected visual acuity was 20/20 OD and 20/400 OS. Pupils were equal with no afferent pupillary defect.
Pulse Polio Immunization, launched in 1995, aimed for 100% coverage of polio vaccine and has resulted in eradication of the disease from India, while improving herd immunity. However, the level of awareness among the caregivers of vaccinees, is unclear, although it is of paramount significance for the overall success of the programme.
Glomus Tumors (GTs) usually occur in young women, most frequently under the nail. Combined with the relevant medical history and unique signs, a preliminary diagnosis can be made, with confirmation by pathological examination. A few cases are seen outside the nail, generally located in the fingers, toes, and beyond the hands and feet, but these are rare.
Fatal hemophagocytic lymphohistiocytosis, probably secondary to leishmaniasis, in an immunocompetent adult, with no response to any treatment
Hemophagocytic Lymphohistiocytosis (HLH) is a rare syndrome, attributed to genetic and acquired factors and is associated with overactivation of macrophages. There are better chances of treatment, when HLH is triggered by an infection. Herein, we describe a rare case which raises questions about this statement. A 53 yearâ€™s old, immunocompetent man, presented with relapsing fever for four months.
Rosai-Dorfman Disease (RDD) is a rare non-Langerhans cell histiocytic disorder most commonly presenting as bilateral cervical lymphadenopathy in children and young adults. Although a heterogeneous entity with a range of clinical phenotypes, here we describe a presentation at one of the oldest ages found to date in the available literature and its spontaneous resolution in the absence of treatment.
Olanzapine is a 2nd generation or atypical antipsychotic medicine belongs to thienobenzodiazepine group that blocks the serontonin (5-Hydroxytryptamine [5-HT]) 5-HT2A and the Dopamine (D2) receptors in particular, and also blocks Muscarinic (M1), Histamine (H1), 5-HT2C, 5-HT3 to 5-HT6, adrenergic (Î±l), and D4 receptors.
A 91-year-old female with a history of hypertension and atrial fibrillation presented to the emergency department with complaints of dyspnea and severe substernal chest pain that began 1 hour prior to presentation. She described the pain as tight and radiating to her left shoulder.
Through the analysis of the publication years, countries, institutions, keywords, references, authors, and journals, we found the main directions and hot topics of Ossification of the posterior longitudinal ligament research. Using the Science Citation Index Expanded (SCI E) database of the Web Of Science (WOS) Core Collection database, publications on OPLL research were retrieved from 1995 to 2019.
Traumatic tongue fibroma treated with individualized homeopathic remedies: A case report with a brief literature review
Reactive hyperplastic lesions are commonly seen in the oral cavity as a result of chronic irritation by plaque, calculus, overhanging margins, trauma and dental appliances. Tongue fibroma represents a reactive focal fibrous hyperplasia due to recurrent trauma or local irritation. It can possibly occur at any age group from almost any soft tissue site, buccal mucosa tongue and gingival where, the buccal mucosa is more commonly involved.
Foundation Year Doctors (FYD) have been immensely impacted by the COVID-19 pandemic because of its effect on their academic training, uncertainties about the novel coronavirus, specific pandemic issues around patients and personal safety. This study examined the effect of the COVID-19 pandemic first national lockdown in the United Kingdom on FYD stress and burnout levels.
Porphyromona gingivalis and Parvimonas micra are anaerobic microorganisms that are usually found in the normal oral microbiome. Bacteremia is rarely caused by P. gingivalis and there have been no reports of splenic abscess caused by P. micra. Treatments for P. micra include vancomycin, ceftriaxone, and metronidazole, while treatments for P. gingivalis include tetracyclines, macrolides, beta-lactam penicillins, and clindamycin.
Nursing as such is considered a noble profession that has possibilities for making it a research based profession. Research is an important entity that shapes and develops every profession and discipline. Historically, it is well known that animals have been used in biomedical research for decades, as animal models to investigate research problems about diseases and how they affect health.
A 77 year-old-man with a complex medical history, notable for multiple myeloma in remission and gout, presented for non-contrast Computed Tomography (CT) of the right upper extremity using dual energy technique, from which cinematic rendered images were created. The cinematic rendered images provide a unique, photorealistic, three-dimensional representation