[Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021;(3):255-259
OBJECTIVE To report on the clinical features and result of genetic testing for a child featuring immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. METHODS Clinical records, genetic testing, laboratory investigation and treatment of the child were summarized in addition with a comprehensive review of the literature. RESULTS The 3-year-old boy was administered due to intractable diarrhea, recurrent infections, liver dysfunction and failure to thrive, though no diabetes or skin disorder was observed. Laboratory testing showed elevated liver enzymes and total IgE, decreased albumin and electrolyte imbalance. Gastrointestinal endoscopy revealed erosion and granules in the duodenum, and edema in the terminal ileum and colon. Biopsies showed villous atrophy in the duodenum and terminal ileum. Genetic testing revealed that the patient has carried a missense c.1087A>G (p.I363V) variant in the exon 10 of the FOXP3 gene. He was treated with enteral and parenteral nutrition, anti infection and Sirolimus, and was waiting for hemopoietic stem cell transplantation. CONCLUSION Although IPEX syndrome usually occur during infancy, it should not be ruled out solely based on the age, and its presentation can be variable. For male children with refractory diarrhea, autoimmune disorder and growth retardation, the diagnosis should be suspected and confirmed by genetic testing.
Spontaneous dissection of bilateral internal carotid and vertebral arteries.
BMJ case reports. 2021;(3)
Spontaneous dissection of the major arteries of the neck is known to increase the risk of stroke or transient ischaemic attack in young and middle-aged adults. Most of the reported cases of arterial dissections in the neck involve one or both paired extracranial carotid or vertebral arteries. Spontaneous dissection of the bilateral internal carotid and vertebral arteries is extremely rare. We report a case of spontaneous bilateral internal carotid artery and vertebral artery dissection while using a prescribed pill for weight loss which contained amphetamine derivative. A review of literature is also provided.
BMJ (Clinical research ed.). 2021;:n993
Approaches to Nutritional Screening in Patients with Coronavirus Disease 2019 (COVID-19).
International journal of environmental research and public health. 2021;(5)
Malnutrition is common among severe patients with coronavirus disease 2019 (COVID-19), mainly elderly adults and patients with comorbidities. It is also associated with atypical presentation of the disease. Despite the possible contribution of malnutrition to the acquisition and severity of COVID-19, it is not clear which nutritional screening measures may best diagnose malnutrition in these patients at early stages. This is of crucial importance given the urgency and rapid progression of the disease in vulnerable groups. Accordingly, this review examines the available literature for different nutritional screening approaches implemented among COVID-19 patients, with a special focus on elderly adults. After a literature search, we selected and scrutinized 14 studies assessing malnutrition among COVID-19 patients. The Nutrition Risk Screening 2002 (NRS-2002) has demonstrated superior sensitivity to other traditional screening measures. The controlling nutritional status (CONUT) score, which comprises serum albumin level, cholesterol level, and lymphocytes count, as well as a combined CONUT-lactate dehydrogenase-C-reactive protein score expressed a predictive capacity even superior to that of NRS-2002 (0.81% and 0.92% vs. 0.79%) in midlife and elder COVID-19 patients. Therefore, simple measures based on routinely conducted laboratory investigations such as the CONUT score may be timely, cheap, and valuable alternatives for identifying COVID-19 patients with high nutritional risk. Mini Nutritional Assessment (MNA) was the only measure used to detect residual malnutrition and high malnutrition risk in remitting patients-MNA scores correlated with hypoalbuminemia, hypercytokinemia, and weight loss. Older males with severe inflammation, gastrointestinal symptoms, and pre-existing comorbidities (diabetes, obesity, or hypertension) are more prone to malnutrition and subsequently poor COVID-19 prognosis both during the acute phase and during convalescence. Thus, they are in need of frequent nutritional monitoring and support while detecting and treating malnutrition in the general public might be necessary to increase resilience against COVID-19.
Orbit and sinonasal metastasis as presenting sign of renal cell carcinoma.
BMJ case reports. 2021;(4)
Orbit and sinonasal metastases are rare. Renal cell carcinoma (RCC) can metastasise to this region. We present the case of a 49-year-old woman with weight loss, diplopia and a rapidly growing facial mass. The initial diagnosis was a primary tumour and patient underwent excisional biopsy, which showed findings consistent with a diagnosis of RCC. On a subsequent focused review of system, the patient reported having intermittent haematuria. Imaging studies revealed a complex right renal mass as the primary tumour. Metastatic RCC should be in the differential diagnosis of patients with facial masses, especially if associated with symptoms suggestive of a systemic involvement such as haematuria. Despite treatment, patients with metastatic RCC tend to have a dismal prognosis. However, early stage diagnosis of metastatic disease can considerably limit surgical complications and improve survival rate in these patients.
False-Positive Nonstructural Protein 1 Antigen in a Patient with Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia: A Case Report with Literature Review.
The American journal of case reports. 2021;:e928865
BACKGROUND A rapid investigation of dengue viral infection is needed for physicians who manage patients with suspected dengue infection. The nonstructural protein 1 (NS1) test kit is commonly used to diagnose patients with acute febrile illness in dengue-endemic countries, although this test kit can yield false-positive results. The Dengue NS1 test kit mostly relies on cross-reaction among febrile illness patients with other viral infections rather than malignancies. CASE REPORT A 52-year-old male patient presented with 3 days of fever, intermittent gum bleeding, weight loss, and mucocutaneous bleeding. He was transferred to a second hospital with acute febrile illness. Both dengue NS1 antigen test kits were positive from the 2 hospitals where he was previously treated. Fever and cytopenia persisted, and then the dengue RT-PCR test was performed to establish the cause of illness. A peripheral blood smear was reviewed and showed blast cells. A bone marrow examination was done to test for the compatibility of lymphoblastic leukemia. The flow cytometry test showed B cells ALL with Philadelphia-positive chromosome. Finally, the result of the dengue RT-PCR test was negative. CONCLUSIONS Our patient presented with fever and viral-like illness, but he was finally diagnosed with Ph+ ALL. We demonstrated the first case of false-positive dengue NS1 antigen in a Philadelphia chromosome-positive (Ph+) acute lymphoblastic leukemia (ALL) patient. Moreover, we reviewed the literature to gather information on false-positive results using the dengue NS1 test kit. The dengue NS1 test kit is useful and produces reliable clinical findings, especially in patients with hematological malignancies.
The occurrence of resveratrol in foodstuffs and its potential for supporting cancer prevention and treatment. A review
Roczniki Panstwowego Zakladu Higieny. 2021;69(1):5-14
Plain language summary
There has been increasing interest in plant-based substances that show potential for preventing cancer development. Resveratrol is among these and is found in the skin of grapes, tomatoes and in red wine. Resveratrol displays anti-carcinogenic capacity by neutralising reactive oxygen species and modulating cell proliferation, differentiation and apoptosis. The purpose of this review was to present the characteristics of resveratrol as a bioactive compound and assess the mechanism of its anti-cancer properties. According to many in vitro and in vivo studies, resveratrol is able to inhibit all stages of carcinogenesis in several types of cancer. Based on these findings, the authors conclude there is a need to promote knowledge of the beneficial effects of resveratrol, and that conventional cancer treatment should be supported by an increase of this substance from both foodstuffs and supplements.
Over recent years, there has been increasing interest noted in those active substances derived from plants that show potential for preventing cancer development. The most promising candidate is resveratrol which can be found in large amounts in the skin of grapes, tomatoes and in red wine. Its beneficial effects on the human body are seen both in prevention and therapy. The anti-carcinogenic action of resveratrol is linked with its ability to neutralise reactive oxygen species and to modulate cellular processes such as apoptosis, and both cancerous cell proliferation and differentiation. This article presents the characteristics of resveratrol as a bioactive compound derived from natural sources exhibiting anti-cancer properties, which, because of a wide spectrum of biological activities may be used in the prevention of cancer. Many in vitro and animal-based studies have demonstrated such preventative anti-cancer action in the colon, prostate, breast and lungs. The beneficial effects of resveratrol are also presented when adopted as a support to conventional treatments of cancer using chemo- and radio-therapy.
Update on the ESCEO recommendation for the conduct of clinical trials for drugs aiming at the treatment of sarcopenia in older adults.
Aging clinical and experimental research. 2021;(1):3-17
BACKGROUND In 2016, an expert working group was convened under the auspices of the European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis (ESCEO) and formulated consensus recommendations for the conduct of clinical trials for drugs to prevent or treat sarcopenia. AIMS The objective of the current paper is to provide a 2020 update of the previous recommendations in accordance with the evidence that has become available since our original recommendations. METHODS This paper is based on literature reviews performed by members of the ESCEO working group and followed up with face to face meetings organized for the whole group to make amendments and discuss further recommendations. RESULTS The randomized placebo-controlled double-blind parallel-arm drug clinical trials should be the design of choice for both phase II and III trials. Treatment and follow-up should run at least 6 months for phase II and 12 months for phase III trials. Overall physical activity, nutrition, co-prescriptions and comorbidity should be recorded. Participants in these trials should be at least 70-years-old and present with a combination of low muscle strength and low physical performance. Severely malnourished individuals, as well as bedridden patients, patients with extremely limited mobility or individuals with physical limitations clearly attributable to the direct effect of a specific disease, should be excluded. Multiple outcomes are proposed for phase II trials, including, as example, physical performance, muscle strength and mass, muscle metabolism and muscle-bone interaction. For phase III trials, we recommend a co-primary endpoint of a measure of functional performance and a Patient Reported Outcome Measure. CONCLUSION The working group has formulated consensus recommendations on specific aspects of trial design, and in doing so hopes to contribute to an improvement of the methodological robustness and comparability of clinical trials. Standardization of designs and outcomes would advance the field by allowing better comparison across studies, including performing individual patient-data meta-analyses, and different pro-myogenic therapies.
Effectiveness of psychosocial interventions in eating disorders: an overview of Cochrane systematic reviews.
Einstein (Sao Paulo, Brazil). 2021;14(2):235-77
Plain language summary
Eating disorders are mental health conditions that can have implications both physiologically and also on psychological and emotional wellbeing. Eating disorders broadly fit into one of three disorders (although there are others); anorexia nervosa (AN) which is characterised by extreme energy intake restriction and disturbances in body weight/shape perceptions. Bulimia nervosa (BN) is characterised by recurred episodes of binging followed by compensatory behaviours such as laxative use, vomiting and/or excessive exercising. Binge-eating disorder (BEN) involved frequent periods of binging without compensatory behaviours and is considered to be more common than AN and/or BN. There is a need for effective psychosocial treatments of eating disorders that enable sufferers to achieve long-term recovery. This paper reviews 101 primary research papers and 30 systematic, meta-analysis and narrative reviews. It concludes that cognitive behavioural therapy (CBT), which incorporates nutritional education, psychoeducation, cognitive, behavioural and self-monitoring interventions to be the most effective treatment for eating disorders, particularly BN and BED. Family-based therapy, based on the Maudsley approach where the family plays a key role in recovery, is considered to be most effective for AN. There may also be a role for low dose antipsychotic medications to help anxious and/or obsessive symptoms. Interpersonal therapy and dialectic behavioural therapy (DBT) may also be effective, where the latter aims to improve emotional regulation and reduce binging in BN and BED.
Eating disorders are psychiatric conditions originated from and perpetuated by individual, family and sociocultural factors. The psychosocial approach to treatment and prevention of relapse is crucial. To present an overview of the scientific evidence on effectiveness of psychosocial interventions in treatment of eating disorders. All systematic reviews published by the Cochrane Database of Systematic Reviews - Cochrane Library on the topic were included. Afterwards, as from the least recent date of these reviews (2001), an additional search was conducted at PubMed with sensitive search strategy and with the same keywords used. A total of 101 primary studies and 30 systematic reviews (5 Cochrane systematic reviews), meta-analysis, guidelines or narrative reviews of literature were included. The main outcomes were: symptomatic remission, body image, cognitive distortion, psychiatric comorbidity, psychosocial functioning and patient satisfaction. The cognitive behavioral approach was the most effective treatment, especially for bulimia nervosa, binge eating disorder and the night eating syndrome. For anorexia nervosa, the family approach showed greater effectiveness. Other effective approaches were interpersonal psychotherapy, dialectic behavioral therapy, support therapy and self-help manuals. Moreover, there was an increasing number of preventive and promotional approaches that addressed individual, family and social risk factors, being promising for the development of positive self-image and self-efficacy. Further studies are required to evaluate the impact of multidisciplinary approaches on all eating disorders, as well as the cost-effectiveness of some effective modalities, such as the cognitive behavioral therapy. RESUMO Transtornos alimentares são doenças psiquiátricas originadas de e perpetuadas por fatores individuais, familiares e socioculturais. A abordagem psicossocial é essencial para o tratamento e a prevenção de recaídas. Apresentar uma visão geral das evidências científicas sobre a efetividade das intervenções psicossociais no tratamento de transtornos alimentares. Foram incluídas todas as revisões sistemáticas publicadas no Banco de Dados de Revisões Sistemáticas da Cochrane Library. Posteriormente, a partir da data menos recente destas revisões (2001), realizou-se uma busca adicional no PubMed, com estratégia de busca sensibilizada e com os mesmos descritores utilizados antes. No total, foram incluídos 101 estudos primários e 30 revisões sistemáticas (5 revisões sistemáticas da Cochrane), metanálises, diretrizes ou revisões narrativas da literatura. Os principais desfechos foram remissão de sintomas, imagem corporal, distorção cognitiva, comorbidade psiquiátrica, funcionamento psicossocial e satisfação do paciente. A abordagem cognitivo-comportamental foi o tratamento mais efetivo, principalmente para bulimia nervosa, transtorno da compulsão alimentar periódica e síndrome do comer noturno. Para anorexia nervosa, a abordagem familiar demonstrou maior efetividade. Outras abordagens efetivas foram psicoterapia interpessoal, terapia comportamental dialética, terapia de apoio e manuais de autoajuda. Além disso, houve um número crescente de abordagens preventivas e promocionais que contemplaram fatores de risco individuais, familiares e sociais, sendo promissoras para o desenvolvimento da autoimagem positiva e autoeficácia. São necessários mais estudos que avaliem o impacto de abordagens multidisciplinares em todos transtornos alimentares, além da relação custo-efetividade de algumas modalidades efetivas, como a terapia cognitivo-comportamental.
Pancreatic Neuroendocrine Tumor presenting as a diffuse pancreatic enlargement, case report and review of literature.
Journal of radiology case reports. 2021;(1):11-20
Pancreatic neuroendocrine tumors are rare neoplasms that comprise 1-2% of all pancreatic tumors. However, they are the second most common solid pancreatic neoplasms. They have a wide range of imaging appearances and they can show common to very rare imaging presentations. Most of the time they are solitary well-marginated enhancing solid mass arising in a certain aspect of the pancreas. We present a case report of a 41-year-old female who underwent clinical work-up for abdominal pain, loss of appetite and weight loss for the past year. Ultrasound, computed tomography, and magnetic resonance imaging show diffuse homogenous pancreatic enlargement without contour deformity or a focal mass. Lymphoma and autoimmune pancreatitis were suggested based on imaging findings but IGg4 level and other lab data were normal. Endoscopic ultrasonography confirmed the diffuse enlargement of the pancreas without peripheral structures involvement. The pathological results of multiple fine-needle aspiration biopsy from all parts of the enlarged pancreas revealed a low-grade neuroendocrine tumor.