Good Anamnesis Research Articles

16p11.2 microdeletion syndrome: a case report

BackgroundThe recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders.Case presentationOur patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her parents’ DNA were analyzed by comparative genomic hybridization-array platform. Comparative genomic hybridization-array analysis highlighted a ∼ 600 kb deletion in 16p11.2 region. It has a segregant nature, since it was found in the mother and in her 2-year-old daughter. The microdeletion was confirmed by fluorescence in situ hybridization analysis.ConclusionsThe presented clinical case is worthy of note since the observed microdeletion is often associated with a clinical phenotype tending to overweightness, but the proband (female) was hospitalized due to poor height and weight development, and anorexia. Moreover, the segregant nature of the observed genomic abnormality has to be noted, as well as the phenotypic variability between the mother and daughter. The case described here enriches the phenotypical spectrum linked to the 16p11.2 microdeletion. For these reasons, in the presence of a suspected genetic pathology it is fundamental to study the proband from the clinical point of view, to extend the clinical observation to the parents, and to provide a good family anamnesis. In this way, it is possible to reveal the presence of a familial genetic pathology whose phenotypical outcomes can be highly variable among the members of a family.

Maternal Death and Isolated Left Ventricular NonCompaction Cardiomyopathy

Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital cardiomyopathy, which is characterized by hypertrabeculations and deep recesses of the left ventricle. A patient could be asymptomatic or presented with common manifestations, including reduced systolic function, arrhythmia, thromboembolic events and heart failure. The rarity of the condition as well as lack of proper assessment has probably led to this condition to be largely underdiagnosed or unrecognized. A 23-year-old lady had collapsed at home thirty one days after delivering her first child. She had a history of goitre diagnosed a year ago and noted to be fairly well throughout the pregnancy. Post mortem findings showed increased trabeculations of the left ventricle. Further history was obtained after the procedure, revealing symptoms such as syncopal attacks and bilateral lower limb weakness dated back as far as five years prior to her sudden demise. These features were in keeping with hypotension hypoperfusion effects resulted from reduced systolic function and decreased ejection fraction, as a result of left ventricular dysfunction. While LVNC remains a rare type of disease, we would like to highlight the importance of a good anamnesis. It may help to uncover some uncommon pathology such as this heart disease, thus warranting an appropriate cardiac imaging to be engaged to clinch the primary diagnosis.

Protocolo diagnóstico del dolor torácico de origen cardiovascular

IntroductionThere are many reasons for chest pain and in the majority of cases, pathologies are not serious. However, some diseases may endanger the patients’ life. Preliminary evaluation and diagnostic testsA good anamnesis and physical examination are the most essential tools for reaching an accurate diagnosis. It is essential to assess the haemodynamic stability of the patient with chest pain and additional important tests are the ECG, chest x-ray and echocardiogram. Causes of chest painAlthough pain may be brought on by non cardiovascular pathologies, the most notable cardiovascular ones are stable and unstable angina, myocardial infarction, pericarditis, aorta dissection, pulmonary thromboembolism and pulmonary hypertension.

550 Chicken? No Way…

Background and aims: Food phobia is a rare condition that can significantly affect the well-being of adolescents. Usually the diagnosis is suspected after a good anamnesis and the behavioral intervention is the most effective approach. Methods: Case report. Results: Female 14-years old adolescent, previously healthy. She was sent to the consultation because of food refusal and a weight loss of 14kg in the past 9 months. This situation started after a choking while eating chicken meat that caused a phobia for solid foods. Since then, she started to feed herself only with small quantities of liquid soup, liquid yoghurts and milk, which caused the weight loss and a secondary amenorrhea in the last 3 months, without body distortion. Her body mass index was 18kg/m2 and the physical exam was normal. The blood analysis showed a mild anemia (hemoglobin 12g/dl) with a normal biochemistry, including thyroid function and lipid profile. With this picture, we started a behavioral training, reinforcing the importance of healthy eating habits, introducing gradually the solid foods, with progressive tolerance. She recovered the lost weight in 8 months and, since then, she had normal eating patterns, except for the difficulty in eating chicken meat, which persisted for almost 18 months. Conclusions: With this case, the authors want to highlight the importance of a good anamnesis, which is crucial for this diagnosis. It is important to have a good follow-up of this adolescent, because the relapses are frequent and it is important to detect it as soon as possible.

Latex Allergy in a Patient with Kabuki Syndrome. Case Report

The knowledge of anesthesiologists of specific aspects of patients with rare syndromes is a growing need since those patients are increasingly taken to the operating room. The objective of this report was to describe a case of latex allergy in a patient with Kabuki Syndrome, whose aspects have not been completely explained, alerting anesthesiologists for the possibility of this association. This is an 11 years old patient with the diagnosis of Kabuki syndrome, admitted for removal of soft tissue lesions. She had a history of allergic reactions after small surgeries. Since she needed to undergo another procedure, after the pre-anesthetic evaluation the patient was referred to an allergist who confirmed, after skin tests, that the patient had latex allergy. She was taken to the operating room for removal of those lesions under general anesthesia. All precautions were taken to avoid new clinical manifestations. Intercurrences were not observed during the procedure and the patient was discharged on the same day without any complications, which reinforced the diagnosis. Kabuki syndrome seems to have a relatively benign course. However, it has many aspects that remain to be cleared and, therefore, the possibility of its association with other condition that might be important for the anesthesiologist exists. The objective of this report was to alert for the risk of its association with latex allergy. For such, during the pre-anesthetic evaluation, a good anamnesis with analysis of predisposing factors other than the syndrome itself should be stimulated.

Myofascial pain associated to trigger points: A literature review. Part 2: Differential diagnosis and treatment

During the last decades the advance in knowledge of myofascial pain has been constant in the medical and dental community. However, although several aspects have been clarified in relation to its epidemiology, clinical characteristics and etiopathogenesis, many uncertainties remain. Many clinical conditions are included in the differential diagnosis of myofascial pain associated to trigger points. A good anamnesis and clinical exploration is thus required in order to ensure correct diagnosis and treatment. Among the numerous treatments used in application to trigger points, the spray-and-stretch technique and direct injection targeted to such trigger points have been found to be the most effective options. In chronic cases, psychosocial intervention is required, due to the high incidence of mood disorders and/or anxiety observed in these patients, who in turn present a poorer prognosis. This underscores the importance of early diagnosis and treatment.

IgG serum antibody responses in suspected liver cystic echinococcosis patients

Cystic echinococcosis is a parasitic zoonosis caused by a tapeworm Echinococcus granulosus. Liver infection is the most common form of human echinococcosis. Diagnosis of liver echinococcosis could be made by different methods. It is very important to have good anamnesis and epidemiological evaluation, clinical status and clinical investigations such as X-ray examination, ultrasonography, nuclear magnetic resonance, computerized tomography, laboratory analysis and serology. Different serologic tests could be used for diagnosis of echinococcosis: complement fixation test, immunoelectrophoresis, indirect haemagglutination, latex agglutination, indirect fluorescence test and enzyme immunoassays sush as ELISA test. The aim of this study was to investigate anti-E granulosus antibodies by ELISA test as a complementary laboratory method in the diagnosis of human echinococcosis. In this study, we investigated 212 patients of suspected liver cystic echinococcosis. ELISA test was used for detection of whole anti-E granulosus IgG antibodies specific for AgB. Out of 212 patients, in 26 (12.26%) patients echinococcosis was confirmed by ELISA test. In 7/26 patients who had data about the ultrasonographic morphological type of cyst according to Gharbi, high values of seropositivity were found. Borderline values were found in 15/212 (7.08%) patients. In three patients with borderline values, second sera samples were examined after 18-22 days. In one patient, the test showed the same value, in the second patient echinococcosis was confirmed while in the third, the test showed a negative value. In 171 (80.66%) patients, anti-Echinococcus antibodies were not found by ELISA test. It has already been known that serological investigation has some limitations, but detection of specific antibodies remains an indispensable mark in evaluation of suspected liver cystic echinococcosis patients.

Diseases of the small bowel in chronic diarrhea: diagnosis and treatment

The incidence of chronic diarrhea in Asia is between 0.8-1.0%. The diseases and abnormalities according to the location, which can cause chronic diarrhea, are divided into three locations: the small bowel, the large bowel and extraintestinal. The small bowel diseases include infectious and non-infectious diseases. The infectious diseases are bacterial infections, parasitic infections etc. The non-infectious diseases include of Crohn’s disease, Celiac sprue, NSAID enteropathy, lactose intolerance, benign tumor, carcinoid tumor, carcinoma, post surgery complications, laxative etc. The approaches to diagnosis include good anamnesis, careful physical examination, supporting laboratory tests, more specialized supporting examinations including X-ray of the colon, esophagogastroduodenum follow-through, enteroclysis, ileo-colonoscopy and endoscopy on the upper portion of the digestive tract including the small intestine with biopsy for histopathology examinations. The treatment for chronic diarrhea is divided into supportive and causal therapy. (Med J Indones 2002; 11: 179-89) Keywords: small bowel, chronic diarrhea, approaches to diagnosis, treatment

Communication in health care

Introduction approach which has exercised considerable influence Although communication in health care is as old as came from the communication sciences. Dividing comHippocrates, it has only recently received attention in its munication into senders, receivers, media, and messages, own right. That is not to say that great doctors such as this discipline formulated the requirements to be put on Hippocrates, Maimonides, Boerhaave or Virchow did not the message in particular. The influence of this approach mention the doctor-patient relationship. On the contrary, was especially felt in the field of patient instruction, 9 they stressed that it was of the utmost importance. In health promotion, and patient education. Watzlawick’s fact, in the days before bacteriological and virological thorough analysis of interaction between people made knowledge, trust, confidence and the power of persuasion clear that messages are not simply messages, but can were a doctors most effective tools. But it is only in the carry different layers of sometimes contradictory meanlast half century that doctor-patient communication has ing. In addition, senders and receivers do not have fixed become an object of attention in its own right. The roles, but constantly take different points of view.A final conference on Communication in Health Care, with the group of theoretical approaches to be mentioned here abstracts presented in this volume, represents the state of came from information theory and has had its influence 10 the art in this subject in 1998. In this editorial we give a on medical decision making .These theoretical apretrospective account of the preceding issues in this proaches, formulated between 1940 and 1970, provide ongoing story. the foundations for the purposes of communication in 11 health care as distinguished by Ong and colleagues : Theoretical foundations creating a good personal relationship, exchanging inSeveral theoretical perspectives fostered the early studies formation, and making treatment decisions. of doctor-patient communication. From a sociological perspective, the concept of ‘power’ was a central issue. 1 The ‘medical model‘ elaborated by Parsons and Vocational and postgraduate training 2 Freidson defines a hierarchical relationship between Training and research into patient-provider interactions doctor and patient. This relationship was criticized by seem to have developed more or less independently of 3 4 many, including Thomas Szasz , Ivan Illich and followeach other. For centuries, communication skills were ers of the Frankfurter Schule, to name just a few of the taught In medical education implicitly. The clinical 5 most well-known. In a special way, ethnomethodology method as taught at universities, mostly in a classical 6 and conversation analysis elaborated sociological remaster-disciple relationship with its roots in the middle search on communication at a micro-level through paying ages, paid little explicit attention to communicative skills. attention to linguistic aspects. ‘Power,’ however, remains Students learned to take a good anamnesis, following a a significant theme within this tradition.Psychoanalysis hypothetico-deductive route to come to a proper diagand psychotherapy offered a different point of view. nosis. ‘Good bed-side manners’ were considered to be Concepts like therapeutic transference and counter-transimportant, but more of an art than a skill. In fact, 7 ference inspired Balint in his work with small groups of communication was learned by imitation of the master, general practitioners. His aim was to make doctors aware not as a discipline of its own. In 1924 the first textbook 12 of the complex interaction between them and their on medical interviewing was published . It must have patients, often built up over a life-time partnership. Carl taken another forty years to put the medical interview on 8 Rogers and his ideas of a therapeutic relationship based the curriculum, at least in the Netherlands. The content of on unconditional positive regard required attention for the curriculum was derived from clinical expertise and such concepts as empathy and interest and focused on the focused on good case history taking skills and models for importance of non-verbal behaviour.Another theoretical special kinds of interactions, like ‘breaking bad news’.

Posthernioplasty urinary retention: a noninvasive work-up for prediction.

The prognostic value of various subjective and objective noninvasive urological parameters was evaluated for their possible role in the prediction of post-hernioplasty urinary retention. In a prospective study, 35 patients aged 55-85 years without previous micturition complaints or urological surgery were evaluated 1 day prior to inguinal hernioplasty. This included medical history for modified Madsen subjective scoring profile, physical examination and uroflowmetry. Bladder capacity, residual urine and prostatic volume were measured by ultrasound. All patients underwent a similar method of hernioplasty, were closely followed 48 h postoperatively and any voiding difficulties or urinary retention were noted. Urinary retention occurred in 12 patients. None of the remaining 23 patients had urination difficulties. Comparing these two groups, we concluded that patient age, bladder capacity and prostatic volume have no prognostic value for potential postoperative urinary obstruction. On the other hand, obtaining a good anamnesis of obstructive and irritative symptoms for scoring, measuring maximal flow rate on urinary flowmetry and estimating residual urine volume may predict patients who are potentially at high risk for posthernioplasty urinary retention.