Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate intake, inefficient absorption and utilization, and/or increased energy needs. The consequences of malnutrition are both short and long term, timely nutritional intervention being necessary in order to maintain an adequate nutritional state. Because there are several types of congenital heart defects and multiple mechanisms by which they produce failure to thrive, no single strategy will be adequate to treat all cases. Medical complications such as chylotorax, necrotizing enterocolitis, laryngeal and neurological dysfunction play a major role in the requisite nutrition therapy in infants with congenital heart defect; limited access to human milk and parenteral concerns, as well as stress about feeding are also factors that can contribute to poor outcomes concerning nutrition and growth. Protocols are being considered and designed, and a systematic approach is always needed. The quality of life for patient and family, as well as getting the child back on track for age-appropriate development are always at the fore-front of each care plan.
Category Archives: AMM 2013, Volume 59, Number 2
Ulcerative Colitis associated with Sclerosing Cholangitis and Autoimmune Hepatitis
Introduction: Ulcerative colitis is a chronic intestinal inflammation, part of inflammatory bowel disease, which also includes Crohn’s disease. Both have extraintestinal manifestations, but those that tend to occur more commonly with ulcerative colitis include chronic active hepatitis, pyoderma gangrenosum and ankylosing spondylitis. Many individuals present with overlapping non-diagnostic features of more than one of these conditions that is referred to in the literature as autoimmune overlap syndrome. Sclerosing cholangitis associated with IBD is often referred to as overlap syndrome.
Material and methods: We present the case of a 15-year-old female, with an association between ulcerative colitis, primitive sclerosing cholalangitis and autoimmune hepatitis. She was admitted for: diarrheic bloody stools, abdominal pain, diminished appetite, headache and aphthous stomatitis. Blood sample analysis revealed: hypochromic anemia, iron deficiency, high levels of transaminase, abnormal protein electrophoresis, positive anti-neutrophil cytoplasmic antibodies and anti–smooth muscle antibodies, high level of faecal calprotectin, modified biliary tract on imaging of digestive system and suggestive modifications of colic mucosa for ulcerative colitis. We administered treatment with Arginine Chloride 5%, Sorbitol 10%, Aspartic acid, Vitamin B6, Ursodeoxycholic acid, 5-aminosalicylic acid.
Results: With the administered therapy the evolution was good, macroscopic blood disappeared from stools, and tests for blood trace in stool were also negative.
Conclusions: The patient had simultaneous onset of diarrhea with bloody stools and extraintestinal manifestations. Immunological markers didn’t fully match any of the associated diseases, so we concluded that there was an overlap syndrome. Budesonide was effective on both hepatic and intestinal disease.
A Case of Plasmacytoid Dendritic Cell Leukemia
Introduction: Plasmacytoid dendritic cell leukemia is a rare subtype of acute leukemia, which has recently been established as a distinct pathologic entity that typically follows a highly aggressive clinical course in adults. The aim of this report is to present a case of plasmacytoid dendritic cell leukemia due to its rarity and difficulty to recognize and diagnose it.
Case report: We present a case of a 67 year-old man who presented multiple subcutaneous lesions on his face, neck, chest and upper extremities with reddish-brown, brown colour. In the bone marrow aspirate 83% of the blast cells were found. Immunophenotypically the blasts were positive for CD4, CD56, CD123 (high intensity), CD36, CD22, CD10 (10.42%), CD33, HLA-DR, CD7 (9.24%), CD38 (34.8%) and negative for CD13, CD64, CD14, CD16, CD15, CD11b, CD11c, CD3, CD5, CD2, CD8, CD19, CD20, CD34. The skin biopsy showed lymphohistiocytoid infiltration in the dermis. The patient was diagnosed with acute plasmacytoid dendritic cell leukemia and received polychemotherapy with rapid response of skin lesions and blastic infiltration of the bone marrow. After 3 courses of polychemotherapy the cutaneous lesions reappeared and multiplied. The blast infiltration in the bone marrow increased to 70%. A more aggressive polychemotherapy regimen was administered, but the patient presented serious complications (febrile neutropenia) and died in septic shock 8 months after the initiation of treatment.
Conclusions: Immunophenotyping of blasts cells is indispensable in the diagnosis of plasmacytoid dendritic cell leukemia. The CD4+, CD56+, lin-, CD123 ++high, CD11c-, CD36+, HLA-DR+, CD34-, CD45+ low profile is highly suggestive for pDCL. The outcome of plasmacytoid dendritic cell leukemia is poor. Despite the high rate of initial response to treatment, early relapses occur and the patients die of disease progression.
Study of Cyclodextrin/Fluoroquinolone Inclusion Complexes by Capillary Electrophoresis
Introduction: In the present work we evaluated the complexation role of cyclodextrins toward fluoroquinolones in an attempt to assess their potential as new formulation additives for more efficient fluoroquinolone delivery and as selectors in capillary electrophoresis.
Material and method: Guest-host interactions of two second generation quinolones, ciprofloxacin and norfloxacin with four cyclodextrins, beta-cyclodextrin (β-CD), gamma-cyclodextrin (γ-CD) and two beta-cyclodextrin derivatives, 2-hydroxypropyl beta-cyclodextrin (HP-β-CD) and randomly methylated beta-cyclodextrin (RAMEB), were tested by capillary electrophoresis in borate running buffer. Experimental parameters like buffer concentration, pH, organic modifier, voltage and cyclodextrin concentration have been varied for a better resolution.
Results: In capillary zone electrophoresis ciprofloxacin and norfloxacin are migrating together, a difference in their migration times and thus separation occured by the addition of cyclodextrins.
Conclusion: Our results suggest formation of inclusion complexes between fluoroquinolones and cyclodextrins. Differences in their affinity to host molecules resulted in separation of the two fluoroquinolones.
Approaches to Scoring Translation in the PROFEX EMP Exam
Introduction: This paper undertakes to investigate the connection between two approaches to scoring translation by examining 115 test papers of the translation component of the C1 level PROFEX English for Medical Purposes (EMP) exam. The main objective of the study is to reveal whether, and to what extent, the method of assessment influences the score.
Material and method: The test papers were scored independently by two experienced raters according to the marking scale of the PROFEX EMP exam, then holistic scoring was carried out by a third rater, who was uninformed of the official scores for the test papers. Correlations were calculated, first between the holistic scores and the official scores based on the combined holistic and discrete point approach, then between other components of the written part of PROFEX EMP exam (reading comprehension and writing) and the holistic scores and the scores reached with the combined method, respectively.
Results: A strong correlation has been revealed between the scores achieved by the purely holistic method and those assessed with the combined holistic and discrete point approach. The holistic method was shown to be slightly more reliable than the combined approach.
Conclusion: The study has revealed that the method of assessment does not significantly influence the score in the evaluation of translation in the PROFEX EMP exam.
Soft Tissue Injuries in Hungarian and Austrian Clinical Diagnostic Reports
Introduction: In addition to providing first aid, primary treating doctors are required to describe and register injuries acquired in accidents and assaults. They should do this with the highest possible accuracy, as this official document is often the only documentary evidence of soft tissue injuries in case a lawsuit is filed later. Characteristics of injuries may disappear faster with the healing process of the soft tissue, making it impossible for forensic experts to deduce the weapon involved. Consequently, terminological accuracy is a prerequisite for the appropriate reconstruction of the type and severity of injuries. This study aims at analysing reports on soft tissue injuries in Hungary and Austria from the terminological point of view. It is meant to reveal inaccuracies in the use of noun phrases impairing objective and accurate forensic assessment.
Material and method: A corpus-based analysis was conducted on 200 Medical Diagnostic Reports (MDRs) from Hungary and Austria (100 from each country) with the linguistic software WordSmith 5.0. Results were processed in Microsoft Excel and demonstrated in graphs.
Results: The analysis showed that terminology describing soft tissue injuries is not consistent. Comparatively few characteristics of injuries were recorded in both sub-corpuses. Due to inconsistent use of terms and missing characteristics, 17 % of the Hungarian and 18% of the Austrian MDRs were not completely assessable by forensic experts.
Conclusions: Describing injuries for legal purposes needs standardisation.
Hedging in Popular Scientific Articles on Medicine
Introduction: The aim of this study is to investigate the process of rewriting medical research papers for the lay public. The latest findings of medical research often appear in the popular media. It is interesting to see what happens to a scientific text when it is transmitted to a new audience. Hedging is usually interpreted as a characteristic feature of scientific discourse. This study focuses on hedging, which also tends to be applied in popularized articles in the field of medicine.
Material and method: Five medical research articles on prenatal vitamins and their online popularizations were examined by means of a text analyzing software, focusing on lexical items considered as hedges. The frequency and the overall percentage of hedging devices with respect to the total number of words were recorded in the five popularizations.
Results: The results of the present study suggest that the linguistic strategy of hedging is applied in popular articles. Approximators, auxiliaries, epistemic verbs and adverbs expressing tentativeness, possibility and politeness were used in the corpus. The overall percentage of the lexical items commonly regarded as hedges, with respect to the total number of words, was 1-2.2% in the five articles. The writers also use linguistic techniques that can be interpreted as attribution shields. These defense tools convey the meaning that it is the researcher, rather than the writer, who is responsible for the truth of the information.
Conclusions: Hedging as a means of uncertainty and negative politeness technique is used in the popularizations analyzed. The present study should be extended to investigate tendencies in popularization of scientific information.
Dominance Relations in the Light of Repair-mechanisms in Family-doctor-Patient and Hospital Teacher-Student Encounters
Introduction: Repair mechanisms, both marked and unmarked, are present in institutional interactions including family doctor-patient and hospital teacher-student encounters. While in most of the cases unmarked repair is carried out by the dominant partner, sometimes marked repair mechanisms are initiated by the client. The present study was undertaken to throw light upon these marked repairs. The aim of the study is to compare two interactions, the first is between a GP and a patient and the second is between a hospital teacher and a student.
Material and method: The dominance relations in the recorded and transcribed dialogues were shown as the first step in the investigation of the repairs. After realising typical repair mechanisms, the focus of the analysis is directed to special occasions, where the initiator is not the dominant participant.
Results: The doctor-patient relationship can be characterized by the dominance of the doctor and in the teacher-student encounter by the dominance of the teacher. Although in most of the cases the dominant participant initiates the turns, the initiation of the non-dominant party can also be observed, in 16–20 % of the encounters.
Conclusions: The relatively frequent repairs of the non-dominant party suggests a diversion from the conventions of the institutional talk, which requires further investigation.
Autologous Stem Cell Transplantation in Patients with Acute Myeloid Leukemia: a Single-Centre Experience
Introduction: Autologous haemopoietic stem cell transplantation (SCT) is an important treatment modality for patients with acute myeloid leukemia with low and intermediate risk disease. It has served advantages over allogenic transplantation, because it does not need a matched donor, there is no graft versus host disease, there are less complications and a faster immune reconstitution than in the allo-setting. The disadvantage is the lack of the graft versus leukaemia effect.
Materials and methods: In the Bone Marrow Transplantation Unit Tîrgu Mureș 14 patients with acute myeloid leukemia received an autologous SCT. Mobilization of the stem cells was performed using chemotherapy and granulocytic colony stimulating factor. The conditioning regimen for SCT consists in monotherapy with busulfan (Bu) 16 mg/kg, BuCy: busulfan in combination with Cyclophosphamide (CY) 120 mg/kg or BuMel: Busulfan in association with Melphalan (Mel) 140 mg/m2.
Results: The median patient age was 36 years (range 20–55), 9 (64%) were males and 5 (36) were females and the median time interval from diagnosis to autologous SCT was 9 months (range 3–25). All the patients were transplanted successfully, all of them achieved a sustained neutrophil count (> 0.5 G/L), median time 11 days (9–15) and platelet count (> 20 G/L) median time 14 days (10–19) after transplantation.
Conclusions: We conclude that autologous stem cell transplantation is an effective treatment in acute myeloid leukemia with the possibility of long survival, particularly in patients with standard risk disease.
The Management of Cryptorchidism at the Pediatric Surgery Clinic of Tîrgu Mureș
Introduction: Cryptorchidism is the most common abnormality of the male sexual development and one of the most common diagnoses in children hospitalized in the Pediatric Surgery Clinic. The diagnosis is mainly clinical: the testis cannot be seen or palpated in the scrotum. For this malformation, the treatment is always surgical: the orchiopexy.
Material and method: This is a retrospective study performed in 2012 in our clinic. The purpose of the study is to report our experience during a year in the management of this abnormality.
Results: There is a standard technique with two incisions (inguinal and scrotal) which was used in 77.12% of cases and a newer technique (Bianchi), with a single incision (scrotal), used in 22.88% of cases.
Conclusion: The results after surgery for cryptorchidism in every case were good, with both techniques.