జర్నల్ ఆఫ్ క్లినికల్ కేస్ రిపోర్ట్స్

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) is an acquired inflammatory disorder of unknown etiology affecting the peripheral nervous system. The disease can be chronically progressive or follow a pattern of relapses and remissions. Motor involvement is usually greater than sensory and causes symmetrical, proximal limb weakness. CIDP is not a common disease in our field. Ignorance in the anesthetic management of these patients creates uncertainty. There are not any guidelines for the specific anaesthetic management of these patients. The possibility of a complications after an anesthetic action has motivated us to share our experience and conclusions after a brief review. The patient’s permission was obtained to publish this case report.

Prostate cancer metastasis to bone and lymph nodes is common, but metastasis to the gallbladder is rare. We report a case of a 72 year-old-male with a three month history of weight loss and nausea. On further evaluation he was found to have an elevated alkaline phosphatase and radiographic evidence of prostate cancer, skeletal metastases, and a gallbladder mass concerning for concomitant gallbladder carcinoma. Prostate biopsy confirmed high-grade prostatic adenocarcinoma. The patient underwent laparoscopic cholecystectomy and pathologic evaluation of the gallbladder revealed metastatic prostatic adenocarcinoma without evidence of gallbladder carcinoma. This case demonstrates a possible association between prostatic adenocarcinoma and the gallbladder.

Soft tissue sarcomas (STS) are rare neoplasms (1% of all cancers in US with a prevalence of 10520 new cases/year) although there are more than 50 different histological type.The current management of STS is addressed to excision of the tumor and to preserve limb function as better as possible; respectingthis balance has been always a challenge for the orthopedic oncology and the importance of treating patients with such sarcomas with wideradical resections obtaining negative pathological margins has beenunderlined in many studies.

Background: Prenatal genetic diagnosis of rare disorders is undergoing in recent years a significant enhancement through the application of methods of massive parallel sequencing. Despite the quantity and quality of the data produced, just few analytical tools and software have been developed in order to identify structural and numerical chromosomal anomalies through NGS, mostly not compatible with bench top NGS platform and routine clinical diagnosis.

Methods: We developed technical, bioinformatic, interpretive and validation pipelines for Next Generation Sequencing to identify SNPs, indels, aneuploidies, and CNVs (Copy Number Variations).

Results: We show a new targeted resequencing approach applied to prenatal diagnosis. For sample processing we used an enrichment method for 4,813 genes library preparation; after sequencing our bioinformatic pipelines allowed both SNPs analysis for approximately thirty diseases or diseases family involved in fetus development and numerical chromosomal anomalies screening.

Conclusions: Results obtained are compatible with those obtained through the gold standard technique, aCGH array, moreover allowing identification of genes involved in chromosome deletions or duplications and exclusion of point mutation on allele not affected by chromosome aberrations.

A case of “apathetic” hyperthyroidism in which an elderly lady presented with symptoms of gastroenteritis was described. Thorough clinical assessment and systematic diagnostic work up are imperative to confirm an occult thyroid disorder as undiagnosed thyroid illness could cause a variety of adverse outcomes in old age.

Intracerebral Hemorrhage (ICH) can be seen in patients with acute leukemia, however, it is extremely rare to present ICH as the initial presentation in previously undiagnosed acute leukemia. Only four cases were reported in the English literature. This 17-year-old male was admitted with sudden onset of headache, nausea and vomiting. Three days before this admission, he visited an ophthalmological department for bilateral blurred vision. Bilateral retinal hemorrhages were detected by the funduscopic examination; however, further examinations were not performed at that time. On arrival at our hospital, his Glasgow Coma Scale was 8 (E2, V3, M3) and urgent head CT scan showed multiple Computed Tomography (CT) head demonstrated multiple ICHs. On admission, his White Blood Cell (WBC) count was 584,000/μl with evidence of blast crisis, and platelet count was 18,000/μl. Despite urgent platelet and plasma transfusions, his conscious level deteriorated, and the patient died 12 hours after the admission due to respiratory failure. The importance of correct diagnosis and early management of leukemia is emphasized, which may prevent blast crisis and disseminated intravascular coagulation leading to fatal ICH.

Background: Sturge-Weber and Klippel-Trenaunay are congenital disorders characterized by the presence of vascular malformation that may indicate an incomplete mild clinical presentation and even combined together. Thus, the challenge of diagnosis and the appropriate follow-up of these patients become necessary due to the possible late onset of other alterations that are characteristic in these syndromes in order to provide a better quality of life for these patients. The aim of this study was to perform a review of literature on Sturge-Weber and Klippel-Trenaunay syndromes and to describe the report of a clinical case.   Case report: A 5-year- old girl that was examined at a Stomatology Department in a Public University Hospital in the city of Rio de Janeiro – Brazil, who presented signs of one of the Sturge-Weber and Klippel-Trenaunay syndromes. She reported spontaneous nasal bleeding occasionally and oral bleeding in the area of the right mandible. Inspection showed gum hyperplasia, soft teeth and mild hypertrophy of lower left limb. The patient has been followed-up at the Clinical Genetics unit as well as the Stomatology Department.   Conclusion: This case report presents the challenges in making a diagnosis, treatment and clinical follow up on children presenting combined signs of rare congenital disorders such as Sturge-Weber and Klippel-Trenaunay syndromes.

This case report is about a 63 year old female patient showing an exacerbation of major depression after a
stressful life event. Three different antidepressant drugs were administered. The chronic antidepressant medication of citalopram was replaced by bupropion, which improved the decreased positive effects. Taking this chronic antidepressant medication, the patient succeeded in getting over another stressful life event, an anti-cancer therapy.

Chagas disease (CD) was firstly discovered by the Brazilian physician Carlos Chagas in 1909. It is an endemic condition caused by a protozoan named Trypanosome cruzi and it is transmitted by the popularly known barber mosquito. The major CD transmission modes to man are blood transfusion or congenital pathways; minor CD transmission modes are organ transplantation, accidental and oral forms. Oral transmission is being considered the main pathway responsible for several outbreaks of CD in Brazil mainly in the Amazon region where 41 cases have been registered in the year of 2011 associated with the acaí intake. This epidemiologic cause occurs due to the instalment of the barber in lowland areas where the acaí is harvested; this, associated to poor fruit handling and hygiene, the final consumption is ought to be contaminated. The patient in this case study was chosen for the particular reason that this form of Chagas transmission is one of the least prevalent seen worldwide. Our study aimed to show the eight years length clinical course of a patient with Chagas disease

Hereditary neuropathy with liability to pressure palsy (HNPP) is an autosomal dominant disorder characterized by recurrent mono-neuropathies related to minimal trauma o compression. HNPP usually manifests in adolescence or adulthood, being relatively exceptional at an earlier age. A 4-month-old boy with brachial plexopathy as early manifestation of HNPP is presented. Familiar anamnesis, as well as neurophysiological and molecular studies, stands out in early diagnostic suspicion. In this case, the early manifestation and its semiological characteristics accentuate its peculiarity.

The battle towards the control of HIV/AIDS in China has experienced some success. However, this success was somewhat limited among some key populations, including men who have sex with men (MSM), due to the problems related to prejudice, stigma and social discrimination. Thus, in order to systematically enhance the effectiveness of intervention strategies/programs, optimized multi-fraternity responses along with multiple layers of institutional and socio-cultural underpinnings should be implemented.

Epigenetics, a fairly new scientific field is uncovering how modifiable factors such as diet and lifestyle can alter genes on a chemical level and the subsequent gene expression for certain diseases. Epigenetics broadly studies the ways in which genes can be altered without changing the DNA sequence itself. This article will first equip the reader with background knowledge regarding the emergence of epigenetics and what epigenetic mechanisms have been discovered in association with changes in gene expression. Finally, this article will discuss current research that focuses on how environmental influences throughout an organism’s life can modulate the susceptibility and prevention of chronic diseases through epigenetic events. Our diets and lifestyle choices are also an integral part of reaching optimal health.

Hidradenocarcinoma is a rare malignancy of the eccrine sweat glands. Existing case studies on this cancer focus on margin free dissection and, less frequently radiation therapy. We report on a unique case of a 43 year old female who had been previously treated via surgical and radiation therapy for hid adenocarcinoma of the right index finger, referred to our practice from radiation oncology, with complaints of a new left neck mass. Subsequent imaging studies confirmed the presence of a left sided node as well as numerous metastatic nodules present throughout the body. Chemotherapy was the recommended treatment. We review the limited literature regarding surgical versus nonsurgical approaches for early detection and treatment of hid adenocarcinomas. The patient’s refusal of recommended treatment highlights the aggressive nature of this rare cancer.

Background: Hypertension is an extremely common clinical problem, affecting approximately 1 billion individuals worldwide. An estimated 1% to 2% of patients with chronic hypertension will at some time develop hypertensive crises (Hypertensive urgency and emergency). Hypertensive urgency and emergency are differentiated by the absence or presence of acute end-organ damage, respectively. The blood pressure of patients with hypertensive emergencies should be reduced rapidly during the treatment. It should not be reduced to the normal value, but by approximately 20-30% of the baseline value. The reason for a stepwise reduction in blood pressure is the fact that patients with chronic hypertension have an altered auto regulation curve.

Case presentation: A 60 year old male patient, who has been a known hypertensive patient admitted due to sudden onset of body weakness, difficulty of speech, diverted lips towards the left side, difficulties in eating, moving, coughing and inability to move right side of his extremities since one day. On P/E the pt. was severely sick looking, and unconscious.

Conclusion: A number of both parenteral and oral antihypertensive drugs can be used in these patients. Treatment of hypertensive crises in patients with hypertensive encephalopathy, intracranial haemorrhage, subarachnoid haemorrhage, and thrombotic stroke has been recommended to be initiated with nicardipine, fenoldopam, nimodipine, flunarizine or labetalol.

Foreign body in nose is one of the most Ear nose Throat emergencies. Round alkaline batteries are one of the most dangerious foreign body in the literature. We present a 5 years old boy with nasal mucosa necrosis against alkaline battery foreign body in the lights of literature.

Upper gastrointestinal endoscopy is a usually safe procedure. Intramural Esophageal Dissection (IED) is a rare disorder often due to the abrupt increased intraesophageal pressure after given the existence of mucosal tear. We present an extremely rare case of iatrogenic IED complicated with pneumomediastinum after a failed gastroscopy for healthy person. Reformatted computed tomographic images successfully established the diagnosis by means of the esophageal double lumen as full extent of intervening mucosal flap and mediastinal air. The patient got improvement following appropriate conservative management. Our case adds support of the hypothesis of gas diffusion across the muscular layers of the esophagus rather than real defect

Pulmonary Embolus (PE), in association with Deep Vein Thrombosis (DVT) is one of the three major cardiovascular causes of death. There are several risk factors for PE but still many cases are idiopathic. Cavity, bullae and lung abscess formation are unusual finding in PE. Right Ventricular (RV) thrombus secondary to PE itself is also rare. Here, we present a case of a young male patient with no prior risk factors, who came to us with a large bullae and cavitation in lung which was secondary to PE. Later he developed RV thrombus and saprophytic fungal colonisation of affected lung which was all attributed to PE. Patient was managed conservatively with anticoagulation and his repeat echo after two months showed clearance of RV thrombus.

Objective: This report aims to disseminate a successful language remediation in a case of Wernicke’s aphasia following encephalitis caused by herpes simplex virus type 1. Methods: A female patient was referred two months post onset of Herpes Simplex Encephalitis (HSE) with severe Wernicke’s aphasia, confusion, environmental disorientation, and dependence in activities of daily living. Non-standardized portions of the Porch Index of Communicative Ability (PICA) was administered in speech-language assessment. A treatment program following the Context-Based Therapy was applied on an intensive schedule, with emphasis on the auditory system. PICA’s multidimensional scoring system was used to monitor patient’s progress. Results: Sixteen months post onset of Wernicke’s aphasia, patient was able to perform auditory comprehension/ memory tasks with gestural/ visual augmentation and demonstrate no deficits on a non-standardized PICA, other than occasional delays and self-corrections. Patient became independent and functional in activities of daily living. Conclusion: There is no proven method for rehabilitation of the Wernicke’s aphasia. The successful rehabilitation including language remediation in this case suggests that a treatment program following the Context-Based Therapy may be helpful in rehabilitation of Wernicke’s aphasia caused by HSE when administered on an intensive schedule.

Coronaries with anomalous origin are difficult to visualize on coronary angiography. Percutaneous coronary intervention (PCI) is a difficult procedure in these vessels because of difficulty in cannulation and poor guide support. The case of a 54-year-old gentleman who presented with an acute inferior wall myocardial infarction from occlusion of an anomalous right coronary artery arising from the left coronary cusp is described.