The role of genetic mutations in genes LMNA, PPARG, PLIN1, AKT2, CIDEC in Köbberling–Dunnigan Syndrome
Published on: 22nd February, 2019
OCLC Number/Unique Identifier: 8022277557
Köbberling-Dunnigan syndrome, also known as partial familial lipodystrophy, is a rare genetic disorder characterized by abnormal distribution of adipose tissues. Many people with Köbberling-Dunnigan syndrome develop insulin resistance, a condition in which body tissues cannot adequately respond to insulin hormone. Insulin is a hormone that helps regulate the level of your blood glucose. Köbberling-Dunnigan syndrome can be due to mutations in several different genes. However, type 2 Köbberling-Dunnigan syndrome is caused by the mutation of the LMNA gene, which is located on the long arm of chromosome 1 as 1q22.
Eating habits and lifestyle changes during the COVID-19 lockdown: A comparative study (before and during isolation) on the 9 de Julio city (Buenos Aires, Argentina) population
Published on: 16th November, 2020
OCLC Number/Unique Identifier: 8872698108
Following the COVID-19 proliferation beyond China’s borders at the beginning of 2020, containment measures have been taken by different countries around the globe. Citizens were forced to stay at home. Specifically, on March 19th, the Argentine Government decided to implement the “Social, preventive and mandatory isolation”, strategy that unfortunately impacts on the lifestyle, the practise of physical activity and on the nutritional aspect of the population. The aim of this study was analize eating habits and lifestyle changes during the COVID-19 lockdown on the 9 de Julio city, Bs. As., Argentina. The survey was conducted using Google Form. The questionnaire was divided into different sections: sociodemographic data, eating habits, physical activity and concepts and emotions associated with isolation. The research reached 287 responses with a medium socioeconomic level. During isolation, the frequency of purchases decreased. It was observed an increase in the consumption of pasta, bread and cakes. Concerning the physical activity, approximately 70% declared to train before the COVID-19 lockdown, decreased by 13% during the lockdown. Other activities conducted during the COVID-19 lockdown; the most mentioned were cleaning the house, cooking, watching television, series and movies. A percentage greater than 50% of the surveyed population associated the situation of lockdown with positive emotions (share with my family, stay at home); while only 24% associate it with negative emotions (anxiety, anguish, fear). It is expected that most habits will return to normal, however, it would be interesting to know which of those developed, adopted and implemented during lockdown will remain in the new normality.
Transference and countertransference are linked to placebo-nocebo effects and they are an auxiliary resource of unparalleled value in general medicine: Recommendations for general practitioners
Published on: 28th February, 2020
OCLC Number/Unique Identifier: 8541457152
Psychological phenomena of the doctor-patient relationship influence the therapeutic process. Among these phenomena are the transference (the emotions of the patient towards the doctor), and the countertransference (the emotional reactions of the doctor towards the patient). Doctor and patient are within an interactive relationship in a conscious and unconscious way: the patient is influenced by the doctor, and vice versa. Doctor is solely responsible for the control of transference and countertransference, since patients do not have a conscious perception of these phenomena. In general medicine the transference/countertransference have connotations of placebo effect and nocebo. The challenge of the doctor-patient relationship for the doctor is to realize the transference and countertransference phenomena and use them to achieve placebo effects and minimize the nocebo, and also respecting the needs of both parties, so that to improve the quality of clinical practice. Under these conditions, transference and countertransference are auxiliary resources of unparalleled value.
Preventive treatment in an osteoporotic femoral upper metaphysis-A clinical case: Me Louise V…
Published on: 29th May, 2020
OCLC Number/Unique Identifier: 8872657831
In 1992, a patient, born July 10, 1910, aged 82, with major osteoporosis [1-3], was operated on her left hip. The surgeon performs a biomaterial transplant using natural coral [4]. Follow-up is two years. She died in 1994 of acute respiratory failure. Three bone graft osteodensitometry [5] shows a regular increase in mineralization; however, on the opposite side, bone mineralization decreases. The anatomical part is examined using x-rays, scanners, photographs, histology [6]. The article reports the findings of this study. It is noted a partial resorption of the biomaterial essentially at the periphery of the graft as well as the different local connections of the preexisting bone with the newly formed bone from the grafted area. The severity of fractures of the femoral neck is no longer to be demonstrated [7]. Multiple therapeutic trials have demonstrated their effectiveness [8,9]. Twenty two patients were transplanted. There was no failure. All died without fracturing their grafted hips.
The evolving landscape of ENT disorder treatments: Recent advances and innovations (2019-2021) – A Commentary
Published on: 17th November, 2021
The field of Otolaryngology-Head and Neck Surgery (ENT) has seen tremendous progress in the development of advanced treatments for various ENT disorders in recent years. This progress has been driven by advances in technology and research, which have led to the development of new and improved surgical techniques, medications, and devices. As a result, patients with ENT disorders now have more treatment options than ever before, and the quality of care that they receive has improved significantly.
A Rare Coexistence: Breast Cancer, Pheochromocytoma and Von Recklinghausen Disease
Published on: 11th December, 2023
Breast cancer associated with type-1 neurofibromatosis is a rare clinical entity. These patients have a higher risk of developing various types of cancers, especially tumors derived from the embryogenic neural crest, such as pheochromocytoma. This publication aims to add to the literature a rare association between Type-1 Neurofibromatosis, breast cancer, and pheochromocytoma.We present a rare case of a 51-year-old Tunisian woman with neurofibromatosis who was diagnosed with breast cancer and pheochromocytoma. The breast tumor was classified as T4b N1M0, and the discovery of the pheochromocytoma was incidental to thoracic-abdominal-pelvic CT. She underwent surgery to remove the adrenal gland and was referred to medical oncologists to receive chemotherapy for her breast cancer. Type-1 Neurofibromatosis disorder is a benign disease but can expose patients to numerous neoplasms. The challenging diagnosis at an early stage can worsen the prognosis and make medical care more difficult.
Prevalence of ESBL urinary tract infection in children
Published on: 8th August, 2019
OCLC Number/Unique Identifier: 8207299945
Urinary tract infection (UTI) is one of the extremely popular causes of febrile illness in children, demanding antimicrobial therapy [1]. Overall, 8% of females and 2% of males, experience at least one incident of UTI by seven years of age, and recurrence takes place in up to 30% during a year [2].
Artificial Intelligence in the healthcare of older people
Published on: 20th March, 2020
OCLC Number/Unique Identifier: 8559314473
Clinical applications of Artificial Intelligence (AI) in healthcare are relatively rare. The high expectations in relation to data analysis influencing general healthcare have not materialized, with few exceptions, and then predominantly in the field of rare diseases, oncology and pathology, and interpretation of laboratory results. While electronic health records, introduced over the last decade or so in the UK have increased access to medical and treatment histories of patients, diagnoses, medications, treatment plans, immunization dates, allergies, radiology images, laboratory and test results, these have potential for evidence-based tools that providers can use to make decisions about a patient’s care, as well as streamline workflow. In the following text, we review the advances achieved using machine learning and deep learning technology, as well as robot use and telemedicine in the healthcare of older people.
Key points:
1. Artificial Intelligence use is extensively explored in prevention, diagnosis, novel drug designs and after-care.
2. AI studies on older adults include a small number of patients and lack reproducibility needed for their wider clinical use in different clinical settings and larger populations.
3. Telemedicine and robot assisted technology are well received by older service users.
4. Ethical concerns need to be resolved prior to wider AI use in routine clinical setting.
Branchio Oculo Facial Syndrome
Published on: 29th November, 2019
OCLC Number/Unique Identifier: 8508295972
A 3-month-old girl presented to the surgical consultation room with bilateral cleft lip incomplete. A girl weighing 4205 g, was born at term after an uneventful pregnancy with a birth weight of 2500 g. There was no family history. On examination, a congenital, linear, erythematous cutaneous anomaly on the left side of her neck was highlighted with ocular anomalies (strabismus and the eyes are widely spaced) and a broad nose with a flattened tip. The examination of the other systems was unremarkable. In front of the association of these different anomalies BOFS was suspected but molecular diagnosis has not been made. The child benefited surgery to correct cleft lip with tennisson procedure with a good postoperative result.
Psychological phenomena in the doctor- Elderly patient relationship
Published on: 8th April, 2020
OCLC Number/Unique Identifier: 8572406620
The doctor-patient communication and the aging of the patients attended by the general practitioner are two important concepts that constantly impact medical consultations. This article raises some reflections and conceptualizations about the main psychological phenomena that have a special importance in the doctor-elderly patient communication and relationship: 1) Stereotypes and prejudices; 2) Regression; 3) Transference, countertransference and resistance; 4) Rapport; 5) Empathy; and 6) Paternalism. The GP must be alert about what affecting the communication with the old man and he should put the means to get a warm relationship. Consequently, to achieve effective communication with an older adult: The GP have to take it easy; to be patient; avoiding stereotypes and prejudices; allowing the patient to establish a benign regressive relationship, until if it is possible due to the biopsychosocial context of the elderly patient, he can begin the non-regressive relationship again; recognizing fact of transference, which put the doctor in another place, is inevitable, but taking into account that it greatly affects his relationship with the patients; avoiding countertransference; considering that the therapeutic alliance or rapport is particularly fragile in elderly patients with chronic diseases; giving greater importance to empathy; knowing that the elderly patient frequently accepts the authority of the doctor, but avoiding falling into an iatrogenic paternalism; and smile.
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