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Category Archives: AMM 2011, Volume 57, Number 6
Correction
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Emergency Anaesthesia for Multiple Trauma
Trauma anaesthesia management is a challenge because we must deal with a critical ill patient with unclear history, injuries and physiologic status. ATLS® protocol is a useful tool in assessing and managing patients with complex and life threatening injuries. Rapid sequence of intubation is the preferred approach for airway control. Many factors combine to increase tracheal intubation difficulty in the trauma patient. Fluid management is especially challenging because of rapid, unpredictable changes in volume status and incomplete pre-operative resuscitation. For severely injured, the damage control resuscitation approach is intended to minimize exacerbating the multifactorial trauma-induced coagulopathy by replacing lost blood with plasma and platelet-containing products (haemostatic resuscitation) instead of using early and large amounts of crystalloids and RBCs (hypotensive resuscitation). This strategy encapsulates also the established concept of damage control surgery in the scope to rapid control the haemorrhage.
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Possibilities and Challenges in the Molecular Diagnosis Of Lysosomal Storage Disorders
In inherited metabolic diseases, the final diagnosis is generally made by classic biochemical methods, despite the monogenic etiology. In lysosomal storage disorders, the suspected clinical diagnosis is confirmed by enzyme assay, and DNA analysis is not mandatory for the diagnosis or initiation of the treatment. Like in most enzyme deficits, the inheritance is recessive (autosomal or X-linked). Genetic heterogeneity is characteristic, and hundreds of alleles of the same gene may exist, caused by various mechanisms or mutations at different nucleotide levels. Besides the targeted analysis of the most frequent mutations (N370S, L444P, R463C, 84GG, recNciI, recTL) in Gaucher disease carried out in the national diagnostic center, often mutation scanning and sequencing is required. Though data must be carefully interpreted, molecular testing may provide important additional information, and it is the basis of carrier testing and prenatal diagnosis. The genotype-phenotype correlation remains inconclusive in most of the cases, though sometimes it can be used as a prognostic marker.
Keywords: lysosomal storage disorders, mutation analysis
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Acute Myeloblastic Leukemia: Difficulties of Treatment, Complications and Evolution
Introduction: This paper presents a special case of an acute myeloblastic leukemia accidentally diagnosed on a 57 years old asymptomatic person without occupational exposure, without a medical history, with normal blood count, without thrombocytopenia, as a result of routine hematological tests that reveal the presence of more than 10% blasts on peripheral blood smear.
Material and method: Bone marrow aspirate revealed 80% blasts and flow cytometry confirmed the diagnosis of acute myeloblastic leukemia LAM0. Cytogenetic examination showed normal karyotype 46, XX. The treatment aims to induce, maintain and consolidate remission. Since the classical therapeutical approach with Idarubicine and Cytarabine 3+7 was not tolerated, adjustments were necessary to 2+5, four courses being administered. During the remission period Methotrexate and Purinetol maintenance treatment was administered, it was obtained a tolerable quality of life, the patient resumed his work. The first relapse occurred after approximately one year. Later medical courses were established after chemotherapy protocol with Clofarabine and Cytarabine, but after intolerance, neutropenia, sepsis and death occured.
Results: Because of the severe prognosis and infectious complications the treatment was difficult and dose ajustments were necessary according to patient’s tolerance. Bone marrow transplant was not possible due to the lack of a compatible family donor.
Conclusions: This case of acute myelogenous leukemia treatment reflects the difficulties and complications occurred during the disease evolution. However remission periods with a tolerable quality of life were obtained, duration of treatment was approximately three years until death.
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Multidisciplinary Approach of Breast Cancer. Case Reports
Introduction: Breast cancer is still the world’s most common cancer in women. Multidisciplinary approach represents the gold standard in diagnosis.
Case presentation: In order to emphasize the importance of this issue, we present three of our cases. In these cases of invasive carcinoma, in women ranged from 42 to 54 years, the diagnosis tools were clinical examination, mammography, ultrasound and histopathology. Minimal invasive breast biopsy and preoperative localisation procedures, under ultrasound and stereotactic guidance contributed to preoperative planning.
Conclusions: Interdisciplinary approach in diagnosis provides optimal management of breast cancer.
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Atrial Fibrillation, the First Manifestation of Atrial Myxoma
Introduction: Atrial myxomas are the most common primary heart tumors. Although quite rare, left atrial myxomas account for 80% of all cardiac tumors. Diagnosis is often difficult due to the wide array of presenting symptoms. This case report discusses an unusual presentation of left atrial myxoma in an elderly patient.
Case presentation: A 73-year old woman with a history of hypertension, dyslipidemia and hyperthyroidism treatment presented to the emergency department with a new onset episode of palpitations. The electrocardiogram revealed atrial fibrillation. Rate control was achieved with beta-blockers and sinus rhythm transition was achieved shortly after admission. Transthoracic echocardiography revealed a heterogeneous mass in the left atria with a villous surface, occupying more than 50% of the left atrial cavity. Surgery was recommended because of the embolic potential of such a mass and tumor excision was performed. Microscopic pathology showed typical histological features of cardiac myxoma with no atypia or malignancy, and the patient was discharged in sinus rhythm 7 days after surgery.
Discussion and conclusions: Left atrial myxoma presenting in the seventh decade of life is rare. Elderly patients often present with non- specific symptoms that are often overlooked in the absence of a supporting cardiac history, which makes an early diagnosis challenging. We conclude that the majority of myxomas mimic many cardiovascular diseases and were detected in symptomatic patients, so a high index of clinical suspicion is important for its early and correct diagnosis. Two-dimensional echocardiography provides substantial advantages in detecting intracardiac tumors.
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Endoscopic Examination: a Present and Future Challenge
The detection and surveillance of patients with premalignant gastric lesions could lead to early detection and treatment of gastric cancer. These lesions are mostly diagnosed in random biopsy samples obtained during conventional endoscopy. New endoscopic techniques, such as magnification endoscopy, may help the detection of neoplastic lesions. In this case series, we intended to emphasize the current problems in the detection and surveillance of gastric neoplasic lesions in clinical practice. Four cases with gastritis-like appearance on conventional endoscopy were identified with gastric dysplasia or carcinoma on histopathologic evaluation. We discussed the subjective interpretation of endoscopic findings, the challenges in the surveillance of low-grade dysplasia and the contribution of magnifying endoscopy on diagnostic accuracy. The performance of endoscopic examination and surveillance could be improved by magnified chromoendoscopy with targeted biopsies. An understanding of diagnostic challenges of gastric dysplasia is crucial in clinical management.
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Tumors of the Oro-Facial System
The increasing number of malignant cases in the oro-facial area represents by their increasing number lately a new problem regarding the treatment and diagnosis. This cases present an increased difficulty of diagnostic and treatment, because they are usually diagnosticated in lately stages. Patients are often unaware of the gravity of their situation due to the lack of specific or almost absent symptomatology.
The incriminated factors and co-factors incriminated in the development of the malignant manifestations are of multiple origins: use of tobacco products, especially associated to alcohol abuse, chronical topic irritation of the oral mucosa, genetic predisposition or some types of viruses (human papilloma virus type 16 and 18 and herpes virus). Also factors like: environmental modifications, age, alimentation or pharmaceutical drug usage can be incriminated for the increasing pathology of the last decades, especially in well developed countries both from Europe and North America.
Our presentation is based on the case of a 61 years old male, showing almost the typical premises of a malignant pathology starting from the evolution of the oral lesion and the general and dental pathology status with the correlation of the objective and subjective examination.
The lesion usually benefits of surgical treatment, followed by radiotherapy and oro-facial reconstruction, that can imply both plastic surgery and prosthetic rehabilitation, as was the case of our patient. Of most importance remains the moment of the prosthetic treatment and its correlation with radiotherapy, regarding the tissue modification that irradiation has on this level.
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Remarks on Odontogenesis in Children After Chemo-radiation Therapy
Introduction: Leukemias are the most frequent forms of neoplasias in children. The oral complications that occur in time, after the specific treatment through chemotherapy or radiotherapy, are represented by the occurrence of multiple carious lesions, disorders of dental eruptions, the premature loss of the primary teeth, anomalies in the development of teeth.
Material and method: Through the clinical examination of the oral cavity and through radiological examination, with the help of the orthopantomogram, we revealed the disorders of dental development consecutive to the cytostatic therapy and radiotherapy in the acute lymphoblastic leukemia.
Results: The specific treatment through chemotherapy and radiotherapy overlapped with important stages of the physiological process of odontogenesis. We noted ageneses, microdontias, precocious eruptions and disorders of the eruption order.
Conclusions: The cytostatic medication and radiotherapy can be followed by anomalies in the development and eruption of the dental buds. The severity of these secondary effects varies according to the patient’s age at the moment of the start of the specific therapy, the stage of dental development, the type of cytostatic medication and the dose and frequency of treatment cycles.
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