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1.
JAMA ; 331(18): 1576-1585, 2024 05 14.
Artigo em Inglês | MEDLINE | ID: mdl-38619828

RESUMO

Importance: Delayed diagnosis of a dislocated hip in infants can lead to complex childhood surgery, interruption to family life, and premature osteoarthritis. Objective: To evaluate the diagnostic accuracy of clinical examination in identifying dislocated hips in infants. Data Sources: Systematic search of CINAHL, Embase, MEDLINE, and the Cochrane Library from the inception of each database until October 31, 2023. Study Selection: The 9 included studies reported the diagnostic accuracy of the clinical examination (index test) in infants aged 3 months or younger and a diagnostic hip ultrasound (reference test). The Graf method of ultrasound assessment was used to classify hip abnormalities. Data Extraction and Synthesis: The Rational Clinical Examination scale was used to assign levels of evidence and the Quality Assessment of Diagnostic Accuracy Studies tool was used to assess bias. Data were extracted using the individual hip as the unit of analysis; the data were pooled when the clinical examinations were evaluated by 3 or more of the included studies. Main Outcomes and Measures: Sensitivity, specificity, and likelihood ratios (LRs) of identifying a dislocated hip were calculated. Results: Among infants screened with a clinical examination and a diagnostic ultrasound in 5 studies, the prevalence of a dislocated hip (n = 37 859 hips) was 0.94% (95% CI, 0.28%-2.0%). There were 8 studies (n = 44 827 hips) that evaluated use of the Barlow maneuver and the Ortolani maneuver (dislocate and relocate an unstable hip); the maneuvers had a sensitivity of 46% (95% CI, 26%-67%), a specificity of 99.1% (95% CI, 97.9%-99.6%), a positive LR of 52 (95% CI, 21-127), and a negative LR of 0.55 (95% CI, 0.37-0.82). There were 3 studies (n = 22 472 hips) that evaluated limited hip abduction and had a sensitivity of 13% (95% CI, 3.3%-37%), a specificity of 97% (95% CI, 87%-99%), a positive LR of 3.6 (95% CI, 0.72-18), and a negative LR of 0.91 (95% CI, 0.76-1.1). One study (n = 13 096 hips) evaluated a clicking sound and had a sensitivity of 13% (95% CI, 6.4%-21%), a specificity of 92% (95% CI, 92%-93%), a positive LR of 1.6 (95% CI, 0.91-2.8), and a negative LR of 0.95 (95% CI, 0.88-1.0). Conclusions and Relevance: In studies in which all infant hips were screened for developmental dysplasia of the hip, the prevalence of a dislocated hip was 0.94%. A positive LR for the Barlow and Ortolani maneuvers was the finding most associated with an increased likelihood of a dislocated hip. Limited hip abduction or a clicking sound had no clear diagnostic utility.


Assuntos
Diagnóstico Tardio , Luxação Congênita de Quadril , Feminino , Humanos , Lactente , Masculino , Diagnóstico Tardio/efeitos adversos , Luxação Congênita de Quadril/classificação , Luxação Congênita de Quadril/diagnóstico , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/epidemiologia , Articulação do Quadril/anormalidades , Articulação do Quadril/diagnóstico por imagem , Exame Físico , Sensibilidade e Especificidade , Ultrassonografia , Reprodutibilidade dos Testes , Recém-Nascido , Prevalência
2.
J Dev Behav Pediatr ; 45(2): e137-e142, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38451868

RESUMO

OBJECTIVE: Catatonia is a distinct and severe medical syndrome comprising motor, somatic, and psychiatric symptoms that is reported in upwards of 17% of young patients with autism spectrum disorders. Clinical experience indicates catatonia is often under-recognized in this clinical population. Here we characterize the clinical presentation of catatonia in patients with and without neurodevelopmental disorders (NDDs) including autism, including the time from symptom onset to diagnosis of catatonia. METHOD: Retrospective chart review of electronic medical records at a large, academic pediatric medical center identified 113 pediatric and young adult patients with a charted history of catatonia, as identified by an encounter diagnosis or problem list entry between September 2017 and September 2021. Workup, treatments, and diagnoses (psychiatric, neurodevelopmental, and genetic) were identified. RESULTS: We observed a clear and substantial delay in identification of catatonia in those with NDDs (diagnosis after 330 days for those without psychosis) compared with neurotypical patients (∼16 days). Psychiatry involvement was associated with shorter delays. CONCLUSION: Intellectual disability and autism are risk factors for significantly delayed diagnosis of catatonia. It is unknown whether delayed diagnosis contributes to the difficulty in treating catatonia in this patient population or whether the treatment difficulties relate instead to differential and ongoing biological mechanisms and underlying encephalopathy. Overall, these findings highlight the importance of increased recognition of catatonia symptoms in patients with NDDs and suggest early referral to psychiatric specialists may shorten the delay to diagnosis.


Assuntos
Transtorno do Espectro Autista , Catatonia , Deficiência Intelectual , Transtornos do Neurodesenvolvimento , Adulto Jovem , Humanos , Criança , Catatonia/diagnóstico , Catatonia/etiologia , Transtorno do Espectro Autista/terapia , Deficiência Intelectual/diagnóstico , Estudos Retrospectivos , Diagnóstico Tardio/efeitos adversos , Fatores de Risco
3.
Rheumatology (Oxford) ; 63(2): 430-435, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-37184889

RESUMO

OBJECTIVES: To examine the prevalence of extra-musculoskeletal manifestations (EMM) and the association between diagnostic delay and their incidence in AS and PsA. METHODS: This was a retrospective, cohort study comprising two single centre cohorts in Europe and one multicentre cohort in Latin America (RESPONDIA). Crude prevalence of EMMs (uveitis, IBD and psoriasis) was calculated across geographic area and adjusted by direct standardization. Cox proportional hazard analysis was performed to assess the association between diagnostic delay and EMM incidence. RESULTS: Of 3553 patients, 2097 had AS and 1456 had PsA. The overall prevalence of uveitis was 22.9% (95% CI: 21.1, 24.8) in AS and 3.8% (95% CI: 2.9, 5.0) in PsA; 8.1% (95% CI: 7.0, 9.4) and 2.1% (1.3, 2.9), respectively, for IBD; and 11.0% (95% CI: 9.7, 12.4) and 94.6% (93.0, 95.9), respectively, for psoriasis. The EMM often presented before the arthritis (uveitis 45.1% and 33.3%, and IBD 37.4% and 70%, in AS and PsA, respectively). In the multivariable model, longer diagnostic delay (≥5 years) associated with more uveitis (hazard ratio [HR] 4.01; 95% CI: 3.23, 4.07) and IBD events (HR 1.85; 95% CI: 1.28, 2.67) in AS. Diagnostic delay was not significantly associated with uveitis (HR 1.57; 95% CI: 0.69, 3.59) or IBD events (HR 1.59; 95% CI: 0.39, 6.37) in PsA. CONCLUSION: EMMs are more prevalent in AS than PsA and often present before the onset of the articular disease. A longer diagnostic delay is associated with the 'de novo' appearance of uveitis and IBD in AS, highlighting the need to enhance diagnostic strategies to shorten the time from first symptom to diagnosis in SpA.


Assuntos
Artrite Psoriásica , Doenças Inflamatórias Intestinais , Psoríase , Uveíte , Humanos , Diagnóstico Tardio/efeitos adversos , Estudos Retrospectivos , Estudos de Coortes , Artrite Psoriásica/complicações , Uveíte/diagnóstico , Uveíte/epidemiologia , Uveíte/etiologia , Doenças Inflamatórias Intestinais/complicações , Doenças Inflamatórias Intestinais/diagnóstico , Doenças Inflamatórias Intestinais/epidemiologia , Psoríase/epidemiologia , Prevalência
5.
Int Arch Allergy Immunol ; 185(4): 392-401, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38154455

RESUMO

INTRODUCTION: Inborn errors of immunity (IEIs) are inherited disorders that present with increased susceptibility to infections as well as noninfectious complications. Due to the aberrant immune functions of patients with IEI, autoimmune cytopenia (AIC) may be the initial finding, which makes diagnosis a challenge. We aimed to evaluate the clinical course, laboratory findings, and treatment response of AIC in children with IEI. METHODS: Data of children with autoimmune hemolytic anemia (AIHA) and/or immune thrombocytopenic purpura (ITP) were obtained from a retrospective chart review of IEI patients diagnosed and followed in our center. Demographic and clinical features and therapeutic outcomes were evaluated. Immunologic findings were compared between patients with AIHA, ITP, and Evans syndrome (ES). The patients were also divided into two subgroups based on the presence or absence of immune dysregulation diseases (IDDs), and all data were compared between these two groups. RESULTS: Out of 562 patients with IEI, 6% (n: 34) had AIC which were ITP (23.5%), AIHA (35.5%), and ES (41.2%). AIC was the initial finding in 50% of these 34 patients. Patients with ES had a higher mean percentage of CD8+ T lymphocytes than ITP patients (40.77 ± 20.21% vs. 22.33 ± 12.48%, p = 0.011). Patients with IDDs were more likely to develop ES (p = 0.004), lymphoproliferation (p = 0.005), and resistance to first-line therapy (p = 0.021) than other IEI groups. CONCLUSION: This study shows that AIC may be the initial finding of IEI, particularly when lymphoproliferation and resistance to first-line therapy co-occur. Therefore, detailed investigation should be offered to all patients to avoid diagnostic delay.


Assuntos
Anemia Hemolítica Autoimune , Citopenia , Púrpura Trombocitopênica Idiopática , Trombocitopenia , Criança , Humanos , Estudos Retrospectivos , Diagnóstico Tardio/efeitos adversos , Anemia Hemolítica Autoimune/diagnóstico , Anemia Hemolítica Autoimune/tratamento farmacológico , Anemia Hemolítica Autoimune/etiologia , Púrpura Trombocitopênica Idiopática/diagnóstico , Púrpura Trombocitopênica Idiopática/tratamento farmacológico
6.
Calcif Tissue Int ; 113(6): 630-639, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37980279

RESUMO

Tumor-induced osteomalacia (TIO) is an ultra-rare disease caused mostly by benign tumors that secrete fibroblast growth factor-23. Because of nonspecific symptoms, the diagnostic delay is long, and therapy can be challenging. Moreover, epidemiological data on TIO are scarce owing to its rarity. Therefore, this study aimed to quantify TIO's incidence rates and prevalence in Germany. Retrospective longitudinal and cross-sectional analyses were conducted using anonymized German claims data from the statutory health insurance (SHI) database. This database, which comprises the data of approximately 5 million insurants, is a representative sample of the German population and supports national projections. As there is no unique International Statistical Classification of Diseases and Related Health Problems (ICD) code for TIO, operational categories based on different surrogates were defined to determine the prevalence and incidence rates of TIO among probable patients. This study showed that TIO has a prevalence of (documented code, advanced imaging, medication, or tumor removal) 0.187 per 100,000 persons and an incidence rate of ≤ 0.094 per 100,000 person years. This analysis provides the first epidemiological insight into German patients with TIO. Despite the general limitations associated with the analysis of SHI claims data of ultra-rare diseases, we believe that this analysis provides a sound basis for further analysis, particularly with regard to the care situation of patients with TIO.


Assuntos
Diagnóstico Tardio , Osteomalacia , Humanos , Estudos Retrospectivos , Estudos Transversais , Diagnóstico Tardio/efeitos adversos , Osteomalacia/epidemiologia , Osteomalacia/etiologia , Alemanha/epidemiologia
7.
Arch Med Res ; 54(8): 102908, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37977919

RESUMO

The 1st line treatment of Cushing's syndrome is surgery, whatever the aetiology. The role of pharmacological treatment is clear in cases where surgery fails or is impossible, in cases of metastases, or while awaiting the delayed effects of radiotherapy. However, certain situations remain controversial, in particular the possible role of pharmacological treatment as a preparation for surgery. This situation must be divided into 2 parts, severe hypercortisolism with immediate vital risk and non-severe hypercortisolism with diagnostic delay. The initiation and adjustment of treatment doses is also controversial, with the possibility of titration by gradual dose increase based on biological markers, or a more radical "block and replace" approach in which the ultimate goal is to achieve hypocortisolism, which can then be supplemented. Each of these approaches has its advantages and drawbacks and should probably be reserved for different patient profiles depending on the severity of hypercortisolism. In this review, we will focus specifically on these 2 points, namely the potential role of preoperative pharmacological treatment and, more generally, the optimal way to initiate and monitor drug treatment to ensure that eucortisolism or hypocortisolism is achieved. We will define for each part which profiles of patients should be the most adapted to try to give advice on the optimal management of patients with hypercortisolism.


Assuntos
Síndrome de Cushing , Doenças do Sistema Endócrino , Humanos , Síndrome de Cushing/tratamento farmacológico , Síndrome de Cushing/diagnóstico , Síndrome de Cushing/etiologia , Diagnóstico Tardio/efeitos adversos , Hidrocortisona
8.
Curr Oncol ; 30(9): 8401-8410, 2023 09 13.
Artigo em Inglês | MEDLINE | ID: mdl-37754525

RESUMO

BACKGROUND: Diencephalic Syndrome is an atypical early manifestation of low-grade gliomas; so, it is important to detect it in patients that experience a failure to thrive despite adequate length growth and food intake. The purpose of this article is to focus attention on this rare but potentially dangerous cause of poor weight gain or stunting in childhood. MATERIALS AND METHODS: We describe four patients with Diencephalic Syndrome and low-grade gliomas who were evaluated in our institution from January 2017 to December 2021. CASE DESCRIPTION AND RESULTS: two patients presented with suspected malabsorption, and two presented with a suspected eating disorder. In all cases, neurological symptoms appeared late, explaining the reason for the diagnostic delay, which impacts negatively on prognosis and on quality of life. Currently, patients 1 and 2 have stable disease in second-line therapy, patient 3 has stable disease post end of second-line therapy, and patient 4 has stable disease in first-line therapy. Everyone is in psychophysical rehabilitation. CONCLUSIONS: A multidisciplinary evaluation is essential in order to make an early diagnosis and improve prognosis and quality of life.


Assuntos
Astrocitoma , Glioma , Humanos , Astrocitoma/complicações , Astrocitoma/diagnóstico , Astrocitoma/tratamento farmacológico , Diagnóstico Tardio/efeitos adversos , Qualidade de Vida , Glioma/complicações , Glioma/diagnóstico , Insuficiência de Crescimento/etiologia , Síndrome
9.
J Allergy Clin Immunol Pract ; 11(12): 3772-3779, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37716525

RESUMO

BACKGROUND: Acquired angioedema with C1-inhibitor deficiency (AAE-C1-INH) is a rare condition resembling hereditary angioedema (HAE), but with late onset and low C1-inhibitor (C1-INH) due to consumption potentially caused by autoimmune diseases and mainly lymphatic malignancies. Being about 10-fold rarer than HAE, there is limited knowledge and no licensed therapy. OBJECTIVE: To report clinical and biological data from a newly described population of 20 patients with AAE-C1-INH assessing diagnostic delay, AAE-C1-INH:HAE-ratio, underlying conditions, and therapeutic management in Germany. METHODS: Retrospective data analysis of 20 patients from 2 angioedema centers in southern Germany. RESULTS: Median age at symptoms' onset was 64 years (60% females), with predominant swellings of the face (85%) and low levels for C1-INH in almost all patients. The ratio AAE-C1-INH:HAE was 1:9.7. From symptoms' onset to diagnosis of AAE-C1-INH, the median delay was 7.5 months, and between AAE-C1-INH symptoms' onset and diagnosis of the underlying hematological condition (n = 9) it was 4 months (median). Four patients had a history of solid neoplasm, 1 had a papillary thyroid carcinoma as the only potential cause for AAE-C1-INH, with treatment of the malignancy resulting in resolution of AAE-C1-INH. All the symptomatic patients were treated with off-label on-demand icatibant subcutaneously or C1-INH concentrate intravenously, and 6 severely affected patients needed off-label long-term prophylaxis with good symptom control. CONCLUSIONS: AAE-C1-INH is characterized by late-onset swellings mainly involving the face and low C1-INH levels. Diagnostic delay for AAE-C1-INH is further decreasing despite being about 10-fold rarer than HAE. Patients severely affected without underlying condition or no indication for treatment could benefit from off-label therapy.


Assuntos
Angioedema , Angioedemas Hereditários , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Angioedema/tratamento farmacológico , Angioedemas Hereditários/diagnóstico , Angioedemas Hereditários/tratamento farmacológico , Proteína Inibidora do Complemento C1/uso terapêutico , Diagnóstico Tardio/efeitos adversos , Estudos Retrospectivos
10.
Harefuah ; 162(7): 457-464, 2023 Aug.
Artigo em Hebraico | MEDLINE | ID: mdl-37561037

RESUMO

INTRODUCTION: Spontaneous cerebrospinal fluid (CSF) leak into the temporal air spaces is a prominent risk factor for meningitis, often leading to debilitating neurological morbidities and even death. CSF leaks may arise due to trauma, congenital malformation, or surgery, but in most cases, they develop spontaneously. In spontaneous CSF leaks, no obvious triggering event is apparent in the patient's clinical history that points to this diagnosis, in contrast to some of the other etiologies. The clinical presentation of spontaneous CSF leaks is not unique and is characterized by patients' complaints, such as hearing loss and aural fullness. These symptoms are commonly associated with prevalent conditions, such as serous otitis media. For these reasons, a typical diagnostic delay of spontaneous CSF leaks, which can last for years in some cases, leaves the patients exposed to meningeal infection without being offered an efficient surgical treatment to keep them safe and protected.


Assuntos
Perda Auditiva , Otite Média com Derrame , Humanos , Diagnóstico Tardio/efeitos adversos , Vazamento de Líquido Cefalorraquidiano/diagnóstico , Vazamento de Líquido Cefalorraquidiano/etiologia , Osso Temporal/cirurgia , Otite Média com Derrame/complicações , Estudos Retrospectivos
11.
Clin Res Hepatol Gastroenterol ; 47(7): 102159, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37307949

RESUMO

BACKGROUND: In the North Denmark Region an increased awareness of eosinophilic esophagitis (EoE) was observed after 2011 where a regional biopsy guideline was implemented. This resulted in an increased awareness of EoE and a 50-fold increase in the incidence of EoE patients between 2007-2017. AIMS: The aims of this study were to examine the progress in diagnostic delay, complications, PPI treatment, and follow up since 2017 in Danish patients with eosinophilic esophagitis. MATERIALS AND METHODS: This was a retrospective registry- and population-based cohort study (DanEoE2 cohort) including 346 adult patients with esophageal eosinophilia diagnosed between 2018-2021 in the North Denmark Region. The DanEoE2 cohort included all possible EoE patients by using the Danish Patho-histology registry based on the SNOMED-system. The data was analyzed and compared to the DanEoE cohort (2007-2017). RESULTS: The diagnostic delay of EoE patients diagnosed between 2018-2021 in the North Denmark Region had decreased with a median of 1.5 years (5.5 (2.0;12) years versus 4.0 (1.0;12) years, p=0.03). Strictures before diagnosis had decreased 8.4 % (11.6% versus 3.2%, p=0.003). The number of patients started on high-dose PPI increased (56% versus 88%, p<0.001). An intensified awareness regarding national guidelines and follow-up was observed as an increase in the number of histological follow up (67% versus 74%, p=0.05). CONCLUSIONS: Comparisons of the DanEoE cohorts showed a decrease in diagnostic delay, a decrease in stricture formation before diagnosis, and an improved guideline adherence after 2017. Future studies are needed to assess if symptomatic or histological remission on PPI treatment is more capable of predicting a patient's risk of developing complications.


Assuntos
Esofagite Eosinofílica , Adulto , Humanos , Esofagite Eosinofílica/diagnóstico , Esofagite Eosinofílica/tratamento farmacológico , Esofagite Eosinofílica/epidemiologia , Constrição Patológica , Diagnóstico Tardio/efeitos adversos , Estudos Retrospectivos , Estudos de Coortes , Fidelidade a Diretrizes , Inibidores da Bomba de Prótons/uso terapêutico , Dinamarca/epidemiologia
12.
Scand J Urol ; 58: 4-10, 2023 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-37096322

RESUMO

OBJECTIVE: To report population-based clinical presentation and outcomes in patients with urosymphyseal fistula (USF) after pelvic radiotherapy (RT). PATIENTS AND METHODS: A retrospective chart review was performed in 33 consecutive patients diagnosed with suspicion of USF in a tertial referral center from 2014-2022 to ascertain information about diagnostic delay, clinical presentation, precipitating causes, treatments received and outcomes during the median 22 months follow-up. Out of 33 consecutive patients with suspicion of USF, one female with vesicovaginal fistula, one patient developing RT-associated bladder angiosarcoma, four patients with short follow-up (<3 months), and three patients that during chart review not were considered to have a USF were excluded. RESULTS: In all, 24 males with a median age of 77 years were diagnosed with USF. Local pain was the predominating symptom in 17/24 (71%) patients. Endourologic manipulations preceded the diagnosis of USF in 16 patients. Five patients had a diagnostic delay of more than 3 months. At diagnosis, 20/24 patients had radiological signs of osteomyelitis, and five had a concomitant rectourethral fistula. Due to comorbidity, five patients were not amenable to any other interventions than urinary catheter or suprapubic tube in conjunction with long-term antibiotics, of which three died from infections related to the USF. Out of the remaining 19 patients receiving some form of urinary diversion, five had recurrent osteomyelitis, of which four did not undergo cystectomy in conjunction with surgery for the USF. CONCLUSIONS: Urethral endourologic interventions in patients previously subjected to pelvic RT should be performed cautiously.


Assuntos
Osteomielite , Derivação Urinária , Fístula Urinária , Masculino , Humanos , Feminino , Idoso , Estudos Retrospectivos , Diagnóstico Tardio/efeitos adversos , Fístula Urinária/etiologia , Derivação Urinária/efeitos adversos , Comorbidade , Osteomielite/complicações , Osteomielite/cirurgia
13.
BMC Infect Dis ; 23(1): 260, 2023 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-37101273

RESUMO

BACKGROUND: Cryptosporidium is recognized as a significant pathogen of diarrhea disease in immunocompromised hosts, and studies have shown that Cryptosporidium infection is high in solid organ transplantation (SOT) patients and often has serious consequences. Because of the lack of specificity of diarrheasymptoms cased by Cryptosporidium infection, it is rarely reported in patients undergoing liver transplantation (LT). It frequently delays diagnosis, coming with severe consequences. In clinical work, diagnosing Cryptosporidium infection in LT patients is also complex but single, and the corresponding anti-infective treatment regimen has not yet been standardized. A rare case of septic shock due to a delayed diagnosis of Cryptosporidium infection after LT and relevant literature are discussed in the passage. CASE PRESENTATION: A patient who had received LT for two years was admitted to the hospital with diarrhea more than 20 days after eating an unclean diet. After failing treatment at a local hospital, he was admitted to Intensive Care Unit after going into septic shock. The patient presented hypovolemia due to diarrhea, which progressed to septic shock. The patient's sepsis shock was controlled after receiving multiple antibiotic combinations and fluid resuscitation. However, the persistent diarrhea, as the culprit of the patient's electrolyte disturbance, hypovolemia, and malnutrition, was unsolved. The causative agent of diarrhea, Cryptosporidium infection, was identified by colonoscopy, faecal antacid staining, and blood high-throughput sequencing (NGS). The patient was treated by reducing immunosuppression and Nitazoxanide (NTZ), which proved effective in this case. CONCLUSION: When LT patients present with diarrhea, clinicians should consider the possibility of Cryptosporidium infection, in addition to screening for conventional pathogens. Tests such as colonoscopy, stool antacid staining and blood NGS sequencing can help diagnose and treat of Cryptosporidium infection early and avoid serious consequences of delayed diagnosis. In treating Cryptosporidium infection in LT patients, the focus should be on the patient's immunosuppressive therapy, striking a balance between anti-immunorejection and anti-infection should be sought. Based on practical experience, NTZ therapy in combination with controlled CD4 + T cells at 100-300/mm3 was highly effective against Cryptosporidium without inducing immunorejection.


Assuntos
Criptosporidiose , Cryptosporidium , Transplante de Fígado , Choque Séptico , Masculino , Humanos , Criptosporidiose/diagnóstico , Criptosporidiose/tratamento farmacológico , Criptosporidiose/complicações , Choque Séptico/etiologia , Choque Séptico/complicações , Cryptosporidium/genética , Transplante de Fígado/efeitos adversos , Hipovolemia/complicações , Hipovolemia/tratamento farmacológico , Antiácidos/uso terapêutico , Diagnóstico Tardio/efeitos adversos , Diarreia/etiologia
14.
J Gastroenterol Hepatol ; 38(7): 1040-1046, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37086041

RESUMO

BACKGROUND AND AIM: Idiopathic myointimal hyperplasia of the mesenteric veins (IMHMV) is an uncommon cause of colonic ischemia for which surgical treatment is typically curative. We describe clinical, radiologic, and endoscopic findings in IMHMV patients to provide clinicians with a framework for pre-surgical identification of this rare disease. METHODS: We performed a systematic review of seven databases for IMHMV cases and identified additional cases from Yale New Haven Hospital records. To identify features specifically associated with colonic ischemia due to IMHMV, we performed multivariate logistic regression analysis incorporating data from a large cohort of patients with biopsy-proven ischemic colitis. RESULTS: A total of 124 patients with IMHMV were identified (80% male, mean age 53 years, 56% Caucasian). Presenting symptoms were most commonly abdominal pain (86%) and diarrhea (68%). The most affected areas were the sigmoid colon (91%) and rectum (61%). Complications associated with diagnostic delay occurred in 29% of patients. Radiologic vascular abnormalities including non-opacification of the inferior mesenteric vein were observed in 35% of patients. Of the patients, 97% underwent curative surgical resection. Compared with non-IMHMV colonic ischemia, IMHMV was significantly associated with younger age, male sex, absence of rectal bleeding on presentation, rectal involvement, and mucosal ulcerations on endoscopy. CONCLUSION: IMHMV is a rare, underreported cause of colonic ischemia that predominantly involves the rectosigmoid. Our findings suggest younger age, rectal involvement, and absence of rectal bleeding as clinical features to help identify select patients presenting with colonic ischemia as having higher likelihood of IMHMV and therefore consideration of upfront surgical management.


Assuntos
Colite Isquêmica , Veias Mesentéricas , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Hiperplasia/patologia , Veias Mesentéricas/diagnóstico por imagem , Veias Mesentéricas/cirurgia , Veias Mesentéricas/patologia , Diagnóstico Tardio/efeitos adversos , Colite Isquêmica/patologia , Isquemia/patologia
15.
J Med Case Rep ; 17(1): 41, 2023 Feb 09.
Artigo em Inglês | MEDLINE | ID: mdl-36755272

RESUMO

BACKGROUND: Lymphadenopathy refers to any disease process involving lymph nodes that are abnormal in size and consistency. There are multiple etiologies in the setting of a diseased lymph node, including conditions of infection, autoimmune diseases, and neoplasia. Lymphadenitis is a term that refers to lymphadenopathies that are due to inflammatory processes and can represent an acute bacterial infection resulting from streptococcal pharyngitis or a prior viral upper respiratory infection. Cervical lymphadenopathy refers to nodal swelling in the neck region. While cervical lymphadenitis is a common clinical finding in the setting of a transient response to a benign local or generalized infection, it may evade detection sometimes and thus account for a percentage of misdiagnosis or delayed diagnosis in the tropics. This case report is aimed at increasing the awareness about the presentation of bacterial cervical lymphadenitis and how it can sometimes mimic the presentation that is typical and regularly found with plasmodiasis. It contributes to improved awareness and high index of suspicion in clinic when dealing with patients in the tropics. CASE PRESENTATION: We present a case of delayed diagnosis of bacterial cervical lymphadenitis that initially presented with typical features of malaria from Plasmodium falciparum. A 26-year-old Nigerian woman presented to the outpatient department following complaints of a recurring fever of a month's duration and bilateral neck swelling of about 2 weeks prior to presentation. CONCLUSION: In the setting of a busy clinic, details are easily missed and salient features in the presentation of a patient that are needed for accurate diagnosis and management could go unrecognized. Hence, this case report highlights the importance of proper examination particularly of lymph nodes and use of different diagnostic modalities for the exact diagnosis of disease.


Assuntos
Linfadenite , Linfadenopatia , Tuberculose dos Linfonodos , Feminino , Humanos , Adulto , Diagnóstico Tardio/efeitos adversos , Linfadenite/diagnóstico , Linfadenite/patologia , Linfonodos/patologia , Linfadenopatia/patologia , Pescoço/patologia , Tuberculose dos Linfonodos/complicações
16.
Endocrine ; 80(1): 160-173, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36517649

RESUMO

BACKGROUND AND AIM: The risk of second primary tumors is increased in general cancer population, however, there is no data on acromegalic cancer patients in this regard. The aim of this study is to determine the prevalence of patients with two primary tumors among acromegalic cancer patients and to evaluate if patients with two primaries have distinct clinical characteristics or risk factors compared to those with one. METHODS: This is a single-center retrospective cohort study. The study included 63 patients with at least one malignant tumor out of a total number of 394 acromegaly patients. Patients with multiple primary neoplasms were evaluated in detail. RESULTS: This study revealed a 16% cancer prevalence in acromegaly patients, with 14% (9/63) having two primary neoplasms. Papillary thyroid carcinoma was the most prevalent tumor in the entire cancer cohort (41%, 26/63), and in the group of patients with two primaries (44%, 4/9). Patients with two primary tumors were older than those with one when diagnosed with acromegaly (48.3 ± 16.6 vs. 43.3 ± 10.7 years), which might be attributed to a longer diagnostic delay (median of 4.5 vs. 2 years). The period between the onset of acromegaly symptoms and diagnosis was not associated with earlier cancer diagnosis. No relationship between circulating GH or IGF-I levels and the number of neoplasms was found. CONCLUSION: The development of second primary tumors in acromegalic patients with cancer diagnosis is not rare. Acromegalic cancer patients should be closely monitored for new symptoms or signs that could be associated with second primary tumors.


Assuntos
Acromegalia , Hormônio do Crescimento Humano , Segunda Neoplasia Primária , Neoplasias da Glândula Tireoide , Humanos , Acromegalia/complicações , Acromegalia/epidemiologia , Acromegalia/diagnóstico , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/diagnóstico , Segunda Neoplasia Primária/epidemiologia , Segunda Neoplasia Primária/complicações , Estudos Retrospectivos , Diagnóstico Tardio/efeitos adversos , Fator de Crescimento Insulin-Like I
17.
Cancer Nurs ; 46(3): 217-232, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35283469

RESUMO

BACKGROUND: Delays before treatment initiation increase the likelihood of later-stage diagnosis of breast cancer and reduce survival. Among Chinese women living in mainland China, Hong Kong, and Taiwan, the amount of time lost in delay and the factors influencing it are unclear. OBJECTIVE: This integrative review aimed to characterize delay intervals among Chinese women, identify factors contributing to delay, and develop a conceptual model of these factors. METHODS: Using Whittemore and Knafl's methodology for integrative reviews, PubMed, CINAHL, Web of Science, SCOPUS, PsycINFO, and China National Knowledge Infrastructure were searched for primary research articles. For 15 selected studies, quality evaluation was performed employing the Crowe Critical Appraisal Tool. A narrative synthesis was developed to summarize and explain the findings. RESULTS: Total delay intervals (from first discovery of breast symptoms to treatment initiation) exceeded 3 months for 50.2% to 52% of breast cancer patients. The greatest delay occurred between symptom discovery and first presentation (patient intervals). Factors affecting delay in presentation, diagnosis, and treatment included symptom appraisal, Chinese cultural factors, knowledge of breast cancer symptoms and screening, health history, personality, social and healthcare factors, and background factors. CONCLUSIONS: Half of Chinese breast cancer patients delayed long enough to lower their chances of survival. Our review sheds light on how the reviewed factors contribute to delay and their unique influences in this population. IMPLICATIONS FOR PRACTICE: Factors identified can inform nursing interventions that raise breast cancer awareness and promote timely diagnosis and treatment in Chinese women.


Assuntos
Neoplasias da Mama , Diagnóstico Tardio , População do Leste Asiático , Feminino , Humanos , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/etnologia , Neoplasias da Mama/terapia , China/epidemiologia , Diagnóstico Tardio/efeitos adversos , Diagnóstico Tardio/psicologia , Diagnóstico Tardio/estatística & dados numéricos , População do Leste Asiático/psicologia , População do Leste Asiático/estatística & dados numéricos , Hong Kong , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Cultura
18.
Port J Card Thorac Vasc Surg ; 30(3): 89-91, 2023 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-38499029

RESUMO

Aortic coarctation is characterized by a segmental narrowing of the aortic lumen, usually diagnosed and treated in the neonatal period or early childhood, but can remain undiagnosed until adulthood. It manifests as a broad spectrum of signs and symptoms, ranging from mild to severe, of which arterial hypertension is one of the most common. In this article, the authors describe the clinical case of a 9-year-old child under investigation in the Pediatric Department for secondary causes of arterial hypertension. A renal Doppler ultrasound study revealed the presence of bilateral parvus et tardus waveform morphology in renal and intrarenal arteries and the proximal abdominal aorta. These findings were suspicious for diagnosing aortic coarctation, which thoracic CTangio confirmed.


Assuntos
Coartação Aórtica , Hipertensão , Criança , Humanos , Aorta Abdominal/diagnóstico por imagem , Coartação Aórtica/diagnóstico por imagem , Diagnóstico Tardio/efeitos adversos , Hipertensão/complicações , Ultrassonografia Doppler
19.
Probl Endokrinol (Mosk) ; 68(5): 32-38, 2022 07 05.
Artigo em Russo | MEDLINE | ID: mdl-36337016

RESUMO

Hypopituitarism is a state of complete or partial deficiency of pituitary hormones, including adrenal insufficiency, hypothyroidism, hypogonadism, growth hormone deficiency, and, rarely, diabetes insipidus.The article describes a clinical case of hypopituitarism due to a pituitary tumor in a postmenopausal woman. Difficulties in diagnosing hypopituitarism were due to a history of primary hypothyroidism. The first identified component of panhypopituitarism in the patient, (central hypothyroidism) had previously been seen as laboratory indications of medication-induced hyperthyroidism.The non-specific nature of the clinical symptoms, as well as a relatively rare combination of endocrine diseases, led to a long examination period and delayed diagnosis of the pituitary tumor.Whether the development of hypopituitarism in a patient with a nonfunctional pituitary tumor is an indication for transsphenoidal pituitary surgery remains a controversial issue. The decision for surgery is made taking into account the characteristics of the course of the disease in a particular patient. In this clinical case, a conservative tactic was chosen with hormone replacement therapy for glucocorticoid and thyroid deficiency.


Assuntos
Adenoma , Hipopituitarismo , Hipotireoidismo , Neoplasias Hipofisárias , Feminino , Humanos , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/diagnóstico , Pós-Menopausa , Diagnóstico Tardio/efeitos adversos , Adenoma/complicações , Adenoma/diagnóstico , Hipopituitarismo/diagnóstico , Hipopituitarismo/etiologia , Hipopituitarismo/tratamento farmacológico , Hipotireoidismo/complicações , Hipotireoidismo/diagnóstico
20.
Medicina (Kaunas) ; 58(10)2022 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-36295553

RESUMO

Background and objectives: Acute cholecystitis causes acute abdominal pain and may necessitate emergency surgery or intensive antibiotic therapy and percutaneous drainage, depending on the patient's condition. The symptoms of acute cholecystitis in older patients may be atypical and difficult to diagnose, causing delayed treatment. Clarifying the risk factors for delayed diagnosis among older patients could lead to early diagnosis and treatment of acute cholecystitis. This study aimed to explore the risk factors for delayed diagnosis of acute cholecystitis among rural older patients. Material and Methods: This retrospective cohort study included patients aged over 65 years diagnosed with acute cholecystitis at a rural community hospital. The primary outcome was the time from symptom onset to acute cholecystitis diagnosis. We reviewed the electronic medical records of patients with acute cholecystitis and investigated whether they were diagnosed and treated for the condition at the time of symptom onset. Results: The average ages of the control and exposure groups were 77.71 years (standard deviation [SD] = 14.62) and 80.13 years (SD = 13.95), respectively. Additionally, 41.7% and 64.1% of the participants in the control and exposure groups, respectively, were men. The logistic regression model revealed that the serum albumin level was significantly related to a time to diagnosis > 3 days (odds ratio = 0.51; 95% confidence interval, 0.28−0.94). Conclusion: Low serum albumin levels are related to delayed diagnosis of cholecystitis and male sex. The presence of abdominal pain and a high body mass index (BMI) may be related to early cholecystitis diagnosis. Clinicians should be concerned about the delay in cholecystitis diagnosis in older female patients with poor nutritional conditions, including low serum albumin levels, a low BMI, vague symptoms, and no abdominal pain.


Assuntos
Colecistite Aguda , Colecistite , Humanos , Masculino , Feminino , Idoso , Estudos Retrospectivos , Diagnóstico Tardio/efeitos adversos , Colecistite Aguda/diagnóstico , Colecistite Aguda/etiologia , Colecistite Aguda/cirurgia , Colecistite/complicações , Colecistite/cirurgia , Fatores de Risco , Antibacterianos , Albumina Sérica , Dor , Resultado do Tratamento
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