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1.
Rev Chilena Infectol ; 38(3): 370-380, 2021 06.
Artigo em Espanhol | MEDLINE | ID: mdl-34479294

RESUMO

Multisystem inflammatory syndrome temporally associated with COVID-19 (MIS-C) is a post-infectious complication described in children and adolescents with previous exposure to SARS-CoV-2. Because of its potential to evolve to severe disease -including cardiovascular impairment and multiple organ failure it requires a prompt diagnosis and appropriate management, including intensive care for most cases. These guidelines compile recent information from scientific literature, from our local clinical experiences during the past pandemic year, and have been discussed by experts. The recommendations provided are meant to help the clinical work of health teams attending the pediatric population.


Assuntos
COVID-19 , Pandemias , Adolescente , Criança , Humanos , SARS-CoV-2 , Síndrome , Síndrome de Resposta Inflamatória Sistêmica
2.
J Med Case Rep ; 15(1): 443, 2021 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-34479628

RESUMO

BACKGROUND: Tubulointerstitial nephritis with uveitis syndrome is a rare disease affecting mainly children and young women. Tubulointerstitial nephritis with uveitis is a diagnosis of exclusion, requiring a high degree of clinical suspicion. Studies report recent infections or certain drugs as precipitating factors of a lymphocytic oculorenal immune response. The prognosis is usually favorable with topical and systemic corticosteroid therapy. CASE PRESENTATION: We report a literature review and the case of a 14-year-old white girl, who presented to the ophthalmology department with features of one-sided uveitis. Upon transfer of patient to nephrological care, diagnostic work-up revealed renal involvement. Renal biopsy showed a mixed-cell and granulomatous tubulointerstitial nephritis with some noncaseating granulomas, leading to a diagnosis of tubulointerstitial nephritis with uveitis syndrome. With topical ocular and systemic corticosteroid therapy, the patients' condition improved over several weeks. CONCLUSIONS: Our case highlights the importance of early recognition and treatment of this syndrome, where cross-specialty care typically leads to a favorable outcome.


Assuntos
Nefrite Intersticial , Uveíte , Adolescente , Feminino , Humanos , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/tratamento farmacológico , Doenças Raras , Síndrome , Uveíte/diagnóstico , Uveíte/tratamento farmacológico
3.
Zhen Ci Yan Jiu ; 46(8): 695-9, 2021 Aug 25.
Artigo em Chinês | MEDLINE | ID: mdl-34472756

RESUMO

OBJECTIVE: To explore the effect on the core symptoms in children with autism spectrum disorder (ASD) treated with acupuncture at "ghost points", combined with the acupoints selected by syndrome differentiation. METHODS: A total of 124 ASD children were divided into a control group and a treatment group according to random number table, 62 cases in each group. In the control group, the routine rehabilitation treatment was provided in all of children, while in the treatment group, acupuncture was exerted at "ghost points", combined with the acupoints selected by syndrome differentiation. Acupuncture treatment was conducted for 15 min each time, 5 days weekly, for 3 months totally. Before and after treatment, the children were assessed with autism spectrum rating scale (ASRS) in two groups. RESULTS: After treatment, the total score (T-score) of ASRS and the score of each sub-scale, e.g. peer socialization, adult socialization, social/emotional reciprocity, atypical language, stereotypy, repetitive behavior, sensory sensitivity, attention/self-regulation were all reduced remarkably as compared with those before treatment in intra-group comparison (P<0.05, P<0.01). Compared with the control group, the scores aforementioned were all significantly reduced in the treatment group (P<0.05). CONCLUSION: Acupuncture at "ghost poitns" combined with the acupoints selected by syndrome differentiation effectively relieves the core symptoms of ASD in children and improves the holistic therapeutic effect.


Assuntos
Terapia por Acupuntura , Transtorno do Espectro Autista , Pontos de Acupuntura , Adulto , Transtorno do Espectro Autista/terapia , Criança , Humanos , Síndrome , Resultado do Tratamento
5.
J Assoc Physicians India ; 69(8): 11-12, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34472813

RESUMO

BACKGROUND: The term 'Capsular warning syndrome (CWS)' refers to recurrent, stereotypical transient ischemic attacks, either motor, sensory or both, without cortical symptoms or signs. Of these patients, 42-71% go on to develop infarcts. There are no defined treatment guidelines for this lesser known entity. METHODS: We studied 9 patients who presented over last 2 years to our hospital with recurrent and stereotypical transient ischemic attacks suggestive of capsular warning syndrome. Their clinical characteristics, neuroimaging findings, relevant etiological investigations, management and outcomes were studied. RESULTS: Seven out of 9 patients were under 40 years of age. The commonest presentation in our series was a pure motor syndrome. The duration of neurologic deficits ranged from 5 minutes to 20 minutes with complete recovery in between episodes. Three patients had concordant abnormalities on CT brain angiography. Five out of 9 patients received IV thrombolysis with t-PA. One patient worsened neurologically post thrombolysis, whilst the others improved clinically. DISCUSSION: Despite multiple hypotheses, the pathogenesis and management of CWS has not been established clearly. Due to fluctuating neurological symptoms with complete recovery in between the episodes, there is a dilemma concerning treatment of such patients with intravenous thrombolysis. However, intravenous thrombolysis appears to be safe in CWS as in acute ischemic stroke, followed by treatment with antiplatelet agents.


Assuntos
Isquemia Encefálica , Ataque Isquêmico Transitório , Acidente Vascular Cerebral , Fibrinolíticos/uso terapêutico , Humanos , Ataque Isquêmico Transitório/diagnóstico , Ataque Isquêmico Transitório/terapia , Inibidores da Agregação Plaquetária/uso terapêutico , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/tratamento farmacológico , Acidente Vascular Cerebral/etiologia , Síndrome , Terapia Trombolítica , Ativador de Plasminogênio Tecidual/uso terapêutico , Resultado do Tratamento
6.
Medicine (Baltimore) ; 100(35): e27040, 2021 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-34477134

RESUMO

ABSTRACT: To investigate the clinical and pathological characteristics in patients with pulmonary inflammatory pseudotumors (PIP).This retrospective study included 31 patients with PIP from 2001 to 2019. Preoperative computed tomography scan was performed in all patients. Clinical and pathological characteristics were collected and analyzed.Thirty-one patients (16 female and 15 male) were recruited, with a median age of 57 years (range, 11-72 years). Eight (25.8%) patients were asymptomatic, and the others had symptoms characterized by cough with sputum, chest and back pain, dry cough, fever and blood in sputum, or hemoptysis. All cases were single lesions, including 23 cases in the right lung, and 8 cases in the left lung. Computed tomography scan demonstrated irregular lobulated nodules or masses in 14 patients, and regular round or oval nodules or masses in 11 cases. The blurred edge of tumors and spiculation was found in 12 cases. Microscopic results were characterized by the collection of inflammatory mesenchymal cells. Immunohistochemical examination showed vimentin, smooth muscle actin, and anaplastic lymphoma kinase positive. Complete tumor resection was obtained in all cases. No recurrence or metastasis was observed during the follow-up period.PIP has a variety of manifestations. Preoperative diagnosis is difficult to reach. The final diagnosis still depends on the pathological and immunohistochemical examination. Complete surgical resection is the main treatment at present, and the overall prognosis is good.


Assuntos
Granuloma de Células Plasmáticas/patologia , Adolescente , Adulto , Idoso , Criança , Feminino , Granuloma de Células Plasmáticas/epidemiologia , Granuloma de Células Plasmáticas/fisiopatologia , Humanos , Pulmão/patologia , Pulmão/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Síndrome , Tomografia Computadorizada por Raios X/métodos
7.
BMC Geriatr ; 21(1): 482, 2021 09 04.
Artigo em Inglês | MEDLINE | ID: mdl-34481482

RESUMO

BACKGROUND: Oral health is essential for daily living and plays a pivotal role in overall health conditions and well-being. This study evaluated the impact of self-reported oral health on geriatric conditions, institutionalization, and mortality. METHODS: This study analyzed the population of the Aging Study of Pyeongchang Rural Area that had undergone geriatric assessments between 2016 and 2017. The oral health status of the participants was determined using three items from the General Oral Health Assessment Index, and the participants were classified into three groups according to the total sum of the scores as good (3), fair (4-7), or poor (8-15). The outcomes were the incidence of geriatric syndromes at 2 years and the composite outcome of mortality and institutionalization. RESULTS: Among the 1189 participants, 44.1 % were women, and the mean age of the study population was 75.0 years. Good, fair, and poor oral health were observed in 597 (50.2 %), 406 (34.1 %), and 186 (15.6 %) individuals, respectively. Worsening oral health status was associated with the incidences of various geriatric syndromes at follow-up, and these associations were attenuated after adjusting for baseline demographic and geriatric parameters. Similarly, the significant association between baseline oral health status and the incidence of the composite outcome was attenuated after adjusting for demographic and geriatric parameters. CONCLUSIONS: Oral health affected the geriatric health conditions in this prospective, longitudinal cohort of community-dwelling older adults. The correlations and interactions of oral health status with other functional parameters may deserve consideration as a geriatric domain.


Assuntos
Fragilidade , Saúde Bucal , Idoso , Feminino , Idoso Fragilizado , Avaliação Geriátrica , Humanos , Vida Independente , Estudos Prospectivos , Síndrome
8.
Am J Case Rep ; 22: e932035, 2021 Aug 24.
Artigo em Inglês | MEDLINE | ID: mdl-34428194

RESUMO

BACKGROUND Eagle syndrome is a vascular compression syndrome that is caused by a very elongated styloid process and/or calcification of the stylohyoid ligament compressing the vascular or nerve structures of the neck, resulting in vascular congestion, thrombosis, or neurological symptoms (eg, dysphagia, neck pain, ear pain). Stylo-jugular venous compression syndrome is a subtype of Eagle syndrome and is caused by compression of the internal jugular vein. Treatment varies according to the symptoms and the severity of the compression, and it can be pharmacological or surgical, with vascular stenting and/or removal of the styloid process. We describe a rare case of left cerebral venous sinus thrombosis and ipsilateral internal jugular vein stenosis sustained by excessive length of the left styloid process. CASE REPORT A 36-year-old woman presented with recurrent episodes of drug-resistant headache and recent memory disturbances. She underwent cerebral and neck multidetector computed tomography-angiography and Doppler ultrasound of the epiaortic vessels that respectively revealed thrombosis of the left cerebral venous sinus and left internal jugular vein stenosis due to a very long styloid process. The patient was treated with anticoagulant drugs and experienced a gradual remission of symptoms. CONCLUSIONS Compression of the jugular vein by the styloid process is a rare entity, and it often goes undiagnosed when it is asymptomatic. Doppler ultrasound is a sensitive method for identifying jugular vein stenosis and can provide an estimated degree of stenosis, which is useful for treatment planning. Doppler ultrasound should be combined with multidetector computed tomography-angiography to rule out compression of other vascular structures and other causes of compression. Failure to treat these patients could have serious health consequences for them.


Assuntos
Veias Jugulares , Ossificação Heterotópica , Adulto , Feminino , Humanos , Veias Jugulares/diagnóstico por imagem , Síndrome , Osso Temporal , Ultrassonografia
9.
Rev Neurol (Paris) ; 177(7): 773-778, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34366172

RESUMO

Four episodic syndromes are recognized in the current version of the International Classification of Headache Disorders (ICHD): cyclic vomiting syndrome (CVS); abdominal migraine; benign paroxysmal vertigo; benign paroxysmal torticollis. Previously called childhood periodic syndromes, they are thought to be early expressions of a migrainous spectrum. They usually occur in childhood or adolescence and some of these patients will develop migraine later in childhood or in adulthood. More rarely, some of these disorders, in particular CVS and abdominal migraine, can persist or even begin at adulthood. The concept of episodic syndromes associated with migraine in adults is relatively recent, recognized for the first time in the version III-beta of the ICHD (2013). It is important for the adult neurologist to recognize the clinical pattern of these disorders. Lack of knowledge of these disorders often leads to delayed diagnosis, and a large number of complementary tests. Treatments are often borrowed from migraine abortive and preventive treatments. This review summarizes the characteristics of episodic syndromes and is particularly focused on data in adults.


Assuntos
Transtornos da Cefaleia , Transtornos de Enxaqueca , Adolescente , Adulto , Vertigem Posicional Paroxística Benigna , Humanos , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/diagnóstico , Transtornos de Enxaqueca/epidemiologia , Neurologistas , Síndrome
10.
Artigo em Russo | MEDLINE | ID: mdl-34380299

RESUMO

OBJECTIVE: Effectiveness comparison of local and general magneto-therapy for determining differentiated indications in order to prescribe the techniques for early rehabilitation of patients after surgical treatment of breast cancer (BC). MATERIAL AND METHODS: It was examined 114 women after radical mastectomy for breast cancer. The patients were divided into 3 groups by the method of simple randomization: the control group (37 women) received therapeutic exercises without additional prescription of physiotherapeutic procedures; 1st main group (38 women) - in addition to exercises a course of local magneto-therapy; 2nd main group (39 women) - general magneto-therapy. The results were assessed using a visual analogue pain scale, goniometry results, remote infrared thermography, hospital anxiety and depression scale (HADS). RESULTS: The inclusion of magneto-therapy in the rehabilitation complex reduced local hyperemia and edema in the area of the postoperative suture on the 7th-8th day in 73.7 and 76.9% of patients of the 1st and 2nd groups, respectively, while in the control group a similar result was observed by 10-14 days. Both methods of magneto-therapy eliminated temperature asymmetry and restored the normal thermographic pattern of the skin surface in the area of the surgical field, reduced the severity of pain, and increased the range of motion in the shoulder joint on the side of the operation. When studying the possibility of eliminating the manifestations of asthenic syndrome a comparison of the two studied methods showed the undoubted advantage of the general exposure to a magnetic field. In addition, it has also caused a statistically significant decrease in indicators of anxiety and depression on the HADS scale, while local exposure to a magnetic field did not have a similar effect. CONCLUSION: The choice of exposure to a magnetic field at the stage of early rehabilitation of women after surgery for breast cancer is determined by the intensity of the pain syndrome, the degree of activity of aseptic inflammation in the area of the postoperative suture, the level of anxiety and depression, and the severity of asthenic syndrome.


Assuntos
Neoplasias da Mama , Terapia de Campo Magnético , Astenia , Neoplasias da Mama/cirurgia , Feminino , Humanos , Mastectomia , Síndrome
11.
Zhongguo Zhong Yao Za Zhi ; 46(13): 3222-3227, 2021 Jul.
Artigo em Chinês | MEDLINE | ID: mdl-34396740

RESUMO

The present study analyzed the current Chinese medicinal health products and Chinese patent medicines effective in boosting memory,aiming at providing references for the formulation and development of memory-boosting health products. The information on memory-boosting health products published by the Department of Special Food Safety Supervision and Management,the State Administration for Market Regulation( SAMR) was collected and the Chinese patent medicines on DRUGDATAEXPY were searched. Microsoft Excel and the TCMISS were used to statistically analyze the characteristics of formulations. A total of 212 memory-boosting health products were obtained from SAMR,including 83 ones containing Chinese medicinal materials. Twelve Chinese herbal medicines showed a usage frequency ≥ 8,with 151 times in use. In DRUGDATAEXPY,258 similar Chinese patent medicines were collected.Twelve Chinese herbal medicines showed a usage frequency ≥ 58,with 907 times in use. Through unsupervised hierarchical entropybased clustering of the above-mentioned Chinese medicinal health products and Chinese patent medicines separately,5 and 12 new formulas were obtained. The selection of Chinese herbal medicines for the new formulas was consistent with the principles of traditional Chinese medicine( TCM) theories,i. e.,tonifying kidney and marrow,benefiting Qi,nourishing Yin,resolving phlegm,and eliminating stasis. According to TCM theories,syndrome differentiation of the users was conducted,and the formulas were designed following the correspondence of syndromes with formulas and Chinese herbal medicines. This study is expected to provide new ideas and methods for the development of Chinese medicinal health products and accurately guide practical applications to exert the advantages of TCM in health care based on syndrome differentiation and improve the effect of Chinese medicinal health products.


Assuntos
Medicamentos de Ervas Chinesas , Medicamentos sem Prescrição , China , Humanos , Medicina Tradicional Chinesa , Síndrome
12.
BMC Med Res Methodol ; 21(1): 166, 2021 08 16.
Artigo em Inglês | MEDLINE | ID: mdl-34399698

RESUMO

PURPOSE: Knowledge regarding symptom clusters may inform targeted interventions. The current study investigated symptom clusters among cancer survivors, using machine learning techniques on a large data set. METHODS: Data consisted of self-reports of cancer survivors who used a fully automated online application 'Oncokompas' that supports them in their self-management. This is done by 1) monitoring their symptoms through patient reported outcome measures (PROMs); and 2) providing a personalized overview of supportive care options tailored to their scores, aiming to reduce symptom burden and improve health-related quality of life. In the present study, data on 26 generic symptoms (physical and psychosocial) were used. Results of the PROM of each symptom are presented to the user as a no well-being risk, moderate well-being risk, or high well-being risk score. Data of 1032 cancer survivors were analysed using Hierarchical Density-Based Spatial Clustering of Applications with Noise (HDBSCAN) on high risk scores and moderate-to-high risk scores separately. RESULTS: When analyzing the high risk scores, seven clusters were extracted: one main cluster which contained most frequently occurring physical and psychosocial symptoms, and six subclusters with different combinations of these symptoms. When analyzing moderate-to-high risk scores, three clusters were extracted: two main clusters were identified, which separated physical symptoms (and their consequences) and psycho-social symptoms, and one subcluster with only body weight issues. CONCLUSION: There appears to be an inherent difference on the co-occurrence of symptoms dependent on symptom severity. Among survivors with high risk scores, the data showed a clustering of more connections between physical and psycho-social symptoms in separate subclusters. Among survivors with moderate-to-high risk scores, we observed less connections in the clustering between physical and psycho-social symptoms.


Assuntos
Sobreviventes de Câncer , Neoplasias , Autogestão , Humanos , Aprendizado de Máquina , Neoplasias/terapia , Qualidade de Vida , Síndrome
13.
BMJ Open ; 11(8): e048115, 2021 08 18.
Artigo em Inglês | MEDLINE | ID: mdl-34408044

RESUMO

INTRODUCTION: The fatigue-sleep disturbance-depression symptom cluster (FSDSC) is one of the most common and debilitating side effects in patients with breast cancer (BC) throughout their treatment trajectory. Tai chi has been supported as a promising non-pharmacological intervention for the individual symptom relief of cancer-related fatigue, sleep disturbance and depression. However, relevant evidence of using tai chi for FSDSC management in patients with BC has been lacking. METHODS: This study will be a two-arm, single-blinded pilot randomised controlled trial involving an 8-week intervention and a 4-week follow-up. Seventy-two patients with BC experiencing the FSDSC will be recruited from two tertiary medical centres in China. The participants will be randomised to either a tai chi group (n=36) or a control group (n=36). The participants in the tai chi group will receive an 8-week tai chi intervention in addition to standard care, while the participants in the control group will receive standard care only consisting of a booklet on the self-management of cancer symptoms. The primary outcomes will include a series of feasibility assessments of the study protocol in relation to the study's methodological procedures, including subject recruitment and follow-up process, completion of study questionnaires and the feasibility, acceptability and safety of the intervention. The secondary outcomes will be the clinical outcomes regarding the effects of tai chi on the FSDSC and quality of life, which will be evaluated by the Brief Fatigue Inventory, the Pittsburgh Sleep Quality Index, the Hospital Anxiety and Depression Scale and the Functional Assessment of Cancer Therapy-Breast questionnaires. ETHICS AND DISSEMINATION: Ethics approval was obtained from relevant sites (H19094, KY2019133, 201932). The findings of the study will be published in peer-reviewed scientific journals and at conferences. TRAIL REGISTRATION NUMBER: NCT04190342; Pre-results.


Assuntos
Neoplasias da Mama , Tai Ji , Neoplasias da Mama/complicações , Neoplasias da Mama/terapia , Depressão/terapia , Fadiga/etiologia , Fadiga/terapia , Estudos de Viabilidade , Feminino , Humanos , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto , Sono , Síndrome
14.
Adv Gerontol ; 34(3): 367-374, 2021.
Artigo em Russo | MEDLINE | ID: mdl-34409815

RESUMO

Against the background of aging, there is an increase in the number of diseases associated with age, geriatric syndromes that contribute to the development of disorders of physical and functional activity, the risk of disability and mortality increases. One of the widespread diseases is chronic kidney disease (CKD), which is dangerous not only in itself, but also as a factor in the progression of other age-associated diseases and geriatric syndromes, including frailty and sarcopenia. Among patients of older age groups, CKD is more common in women than in men. A number of researchers are studying the problems of polymorbidity, the development and progression of geriatric syndromes in patients with CKD in the pre-dialysis and dialysis stages. Undoubtedly, the negative role of severe late stages of CKD in the development of senile asthenia and sarcopenia, at the same time, the relationship of these geriatric syndromes with early pre-dialysis stages of CKD has been insufficiently studied. Therefore, it is of undoubted scientific interest to identify correlations between signs of sarcopenia and frailty in elderly and senile women, depending on renal function, stage of CKD.


Assuntos
Fragilidade , Sarcopenia , Idoso , Envelhecimento , Feminino , Fragilidade/diagnóstico , Fragilidade/epidemiologia , Avaliação Geriátrica , Humanos , Rim , Masculino , Sarcopenia/diagnóstico , Sarcopenia/epidemiologia , Síndrome
15.
J Pak Med Assoc ; 71(8): 2093-2096, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34418039

RESUMO

Diabetes mellitus has reached pandemic proportions throughout the globe. Though hyperglycaemia is the hall mark feature of diabetes, there are several variations in its etiology, clinical presentation, and associated complications. Some of these variations have been distinctly described in specific regions and ethnicities across India and other regions in the world. In this commentary we describe these endemic syndromes associated with diabetes to improve their awareness, recognition and management. A focused attention on these relatively neglected clinical challenges would encourage future discussion and research to address these conditions.


Assuntos
Diabetes Mellitus , Hiperglicemia , Diabetes Mellitus/epidemiologia , Diabetes Mellitus/terapia , Humanos , Índia/epidemiologia , Síndrome
16.
BMJ Case Rep ; 14(8)2021 Aug 11.
Artigo em Inglês | MEDLINE | ID: mdl-34380690

RESUMO

Eagle's syndrome was first described by Watt Eagle in 1937, as a syndrome of vague orofacial and cervical pain. He reported two variants, classic styloid and stylocarotid artery syndrome. Eagle's syndrome is a non-perceived and underdiagnosed clinical condition of the head and neck. This anomalous entity presents with neck pain, globus sensation, difficulty in turning the head, dysphagia, odynophagia and various other symptoms occurring as a result of irritation to the nearby structures. The surgical management of Eagle's syndrome consists of two major approaches: the transoral and the transcervical approaches. We report a case of classic bilateral elongated styloid process syndrome, treated with transcervical styloidectomy for painful left elongated styloid process. This gave permanent relief to the patient. The transcervical surgical approach for resection of elongated styloid process in patients with Eagle's syndrome appears to be safe and effective, although the risk for transient marginal mandibular nerve weakness is notable.


Assuntos
Ossificação Heterotópica , Humanos , Masculino , Cervicalgia/etiologia , Ossificação Heterotópica/diagnóstico por imagem , Ossificação Heterotópica/cirurgia , Síndrome , Osso Temporal/anormalidades , Osso Temporal/diagnóstico por imagem , Osso Temporal/cirurgia
17.
Am J Case Rep ; 22: e932450, 2021 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-34366428

RESUMO

BACKGROUND Pfeiffer syndrome (PS) is a fibroblast growth factor receptor (FGFR)-associated craniosynostosis syndrome, characterized by abnormally broad and medially deviated thumbs and great toes. Tracheal cartilage sleeve (TCS) is associated with several FGFR-associated craniosynostosis syndromes, including PS. TCS is an airway malformation in which the tracheal cartilage rings fuse with each other to form a sleeve of cartilage. CASE REPORT The patient was a 4-year-old girl with PS, TCS, and abnormal hyperplasia of non-fused intrapulmonary cartilages. The patient showed cranial dysplasia on prenatal ultrasonography. At birth, a cloverleaf skull in association with hydrocephalus and digital malformations was apparent. These findings were consistent with PS type 2. The diagnosis of PS type 2 was confirmed from a genetic test detecting a FGFR2 mutation (Y340C). During the clinical course, she underwent several surgeries, including ventriculoperitoneal shunts, sequential cranioplasty surgeries, and tracheotomy due to upper airway abnormalities. At 4 years old, she died of multiple organ failure following aspiration pneumonia. The autopsy revealed that the tracheal cartilages had fused with each other, resulting in a condition called TCS, in which the cartilage rings and tracheal ligaments were absent. The lungs were poorly aerated, and the dilated bronchi had thickened walls surrounded by many cartilage fragments, mainly at the hilum. These cartilages tended to overlap at both ends, did not fuse, and were greatly altered in size and shape. CONCLUSIONS We report the results of autopsy for PS with the first histopathological findings for the lungs and other visceral organs.


Assuntos
Acrocefalossindactilia , Craniossinostoses , Acrocefalossindactilia/patologia , Autopsia , Brônquios , Cartilagem/patologia , Pré-Escolar , Feminino , Humanos , Hiperplasia/patologia , Recém-Nascido , Fenótipo , Gravidez , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Síndrome
18.
S D Med ; 74(7): 324-328, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34449996

RESUMO

Drug reaction with eosinophilia with systemic symptoms (DRESS) syndrome is a rare drug reaction often presenting with both cutaneous manifestations and potentially life-threatening internal organ involvement. The precise incidence of DRESS is still unclear as it is easily missed due to its highly variable clinical presentation. However, with an expected mortality rate of approximately 10 percent, it is important for clinicians to be familiar with pharmacologic etiologies commonly implicated in the pathogenesis. We present a case of DRESS syndrome attributed to cross-reactivity between two commonly used anticonvulsants- lacosamide and lamotrigine.


Assuntos
Anticonvulsivantes , Eosinofilia , Anticonvulsivantes/efeitos adversos , Humanos , Lacosamida/efeitos adversos , Lamotrigina/efeitos adversos , Síndrome
20.
Dtsch Arztebl Int ; 118(25): 425-431, 2021 06 25.
Artigo em Inglês | MEDLINE | ID: mdl-34374332

RESUMO

BACKGROUND: Patients with functional somatic syndromes (FSS) might be prone to potentially harmful medical investigations in ambulatory care. The primary aim was to investigate whether patients with FSS are more likely to undergo diagnostic examinations such as radiography, computed tomography (CT), magnetic reso - nance imaging (MRI), and outpatient surgical procedures. The secondary aim was to evaluate the extent to which coordination of care by primary care physicians reduces healthcare utilization. METHODS: Retrospective cohort study using longitudinal regression analysis of routine data. FSS patients were weighted in the regression model to allow a representative comparison with the Bavarian population. The observation period was from 5 years before until 10 years after the diagnosis of FSS. RESULTS: The cohort comprised 43 676 patients with FSS and a control group of 50 003 patients without a diagnosis of FSS. The FSS patients exhibited continuously increased healthcare utilization over the 15-year period. The relative risk (RR) for FSS patients was up to 1.48 (95% confidence interval [1.46; 1.50]) for radiography, 2.01 [1.94; 2.08] for CT, 1.91 [1.87; 1.96] for MRI, and 1.30 [1.27; 1.34] for outpatient surgery. Compared with patients whose treatment was coordinated by their primary care physician, patients with no such coordination showed higher service utilization. The ambulatory care costs were up to 1.37 [1.36; 1.38] times greater. CONCLUSION: Patients with FSS more frequently undergo potentially harmful and costly diagnostic testing and outpatient surgery. Coordination of care by the primary care physician is associated with lower healthcare utilization.


Assuntos
Médicos de Atenção Primária , Transtornos Somatoformes , Estudos de Coortes , Humanos , Estudos Retrospectivos , Transtornos Somatoformes/epidemiologia , Síndrome
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