scholarly journals What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

2021 ◽  
Vol 10 (22) ◽  
pp. 5457
Author(s):  
Anna G. W. Rosenberg ◽  
Minke R. A. Pater ◽  
Karlijn Pellikaan ◽  
Kirsten Davidse ◽  
Anja A. Kattentidt-Mouravieva ◽  
...  
Keyword(s):  
Internal Medicine ◽  
Life Expectancy ◽  
Diagnostic Testing ◽  
Case Series ◽  
Multiple Organ ◽  
Clinical Approach ◽  
Genetic Syndromes ◽  
Organ Systems ◽  
Number Of Patients ◽  
Missed Diagnoses

Patients with complex rare genetic syndromes (CRGS) have combined medical problems affecting multiple organ systems. Pediatric multidisciplinary (MD) care has improved life expectancy, however, transfer to internal medicine is hindered by the lack of adequate MD care for adults. We have launched an MD outpatient clinic providing syndrome-specific care for adults with CRGS, which, to our knowledge, is the first one worldwide in the field of internal medicine. Between 2015 and 2020, we have treated 720 adults with over 60 syndromes. Eighty-nine percent of the syndromes were associated with endocrine problems. We describe case series of missed diagnoses and patients who had undergone extensive diagnostic testing for symptoms that could actually be explained by their syndrome. Based on our experiences and review of the literature, we provide an algorithm for the clinical approach of health problems in CRGS adults. We conclude that missed diagnoses and needless invasive tests seem common in CRGS adults. Due to the increased life expectancy, an increasing number of patients with CRGS will transfer to adult endocrinology. Internist-endocrinologists (in training) should be aware of their special needs and medical pitfalls of CRGS will help prevent the burden of unnecessary diagnostics and under- and overtreatment.

scholarly journals What Every Internist Should Know About Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five-Year Experience of Internal Medicine for Complex Rare Genetic Syndromes

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A513-A514
Author(s):  
Anna G W Rosenberg ◽  
Minke R A Pater ◽  
Kirsten Davidse ◽  
Anja A Kattentidt-Mouravieva ◽  
Rogier Kersseboom ◽  
...  
Keyword(s):  
Internal Medicine ◽  
Intellectual Disability ◽  
Financial Burden ◽  
Multiple Organ ◽  
Pediatric Care ◽  
Clinical Approach ◽  
Genetic Syndromes ◽  
Adult Age ◽  
Organ Systems ◽  
Missed Diagnoses

Abstract Introduction: Patients with complex rare genetic syndromes (CRGS) have, by definition, combined medical problems affecting multiple organ systems. Intellectual disability (ID) is often part of the syndrome. During childhood, most patients with CRGS receive multidisciplinary (MD) and specialized pediatric care in tertiary centers. As improvement of medical care has improved life expectancy, more and more patients are now reaching adult age. While the complexity of the syndromes persist into adulthood, adequate multidisciplinary syndrome-specific care is rarely available for adults with CRGS. Although multiple organ systems are usually affected, internists are rarely involved. Pediatricians have expressed the urgent need for adequate, syndrome-specific, MD tertiary healthcare for adults with CRGS. Methods: In 2015 we have launched the Center for Adults with CRGS, a specialized MD outpatient clinic (MOPC) within the Endocrinology unit of the department of Internal Medicine. As adult manifestations are unknown for most CRGS, all CRGS patients who visit our MOPC undergo a systematic health screening (followed by treatment, if indicated). Before visiting the MOPC, caregivers fill out a medical questionnaire. We gathered the physical complaints, medication use and missed diagnoses of 726 adults with CRGS. Results: Between 2015 and 2020, 256 males and 470 females with over 60 syndromes visited the Center for Adults with CRGS. The main features of this population, as compared with general internal medicine patients, were intellectual disability, polypharmacy and use of psychotropic drugs. Missed diagnoses were common and many patients had undergone extensive diagnostic tests for symptoms that could actually be explained by their syndrome. Fatigue (52%), abdominal discomfort (23%) and hypertension (10%) were among the most frequent reasons for referral to Internal Medicine. Based on the literature and our clinical findings, 73% of the syndromes was associated with endocrine problems. We provide an algorithm for the clinical approach to CRGS adults, in order to prevent unnecessary diagnostics as well as missed diagnoses. Conclusion: Our overview of 726 adults with CRGS shows that missed diagnosed and needless invasive tests are common in this patient population. As more and more CRGS patients are now reaching adult age and transfer to Internal Medicine, internists and endocrinologists should be aware of the special needs of adults with CRGS and of the medical pitfalls. Knowledge about syndrome-specific health problems and multidisciplinary expert care is crucial to prevent the personal and financial burden of unnecessary diagnostics and under- and overtreatment.

scholarly journals Ruptured Splenic Artery Aneurysm in the Postpartum Patient: A Case Series

2020 ◽  
Vol 4 (3) ◽  
pp. 304-307
Author(s):  
Angel Rochester ◽  
Tracy Lance ◽  
Dane Smith ◽  
Camiron Pfennig ◽  
Adam Tyson ◽  
...  
Keyword(s):  
Emergency Department ◽  
Differential Diagnosis ◽  
Splenic Artery ◽  
Case Series ◽  
Artery Aneurysm ◽  
Multiple Organ ◽  
Splenic Artery Aneurysm ◽  
High Morbidity ◽  
Organ Systems ◽  
Mortality Case

Introduction: The evaluation of an unstable peripartum patient in the emergency department includes a differential diagnosis spanning multiple organ systems. Splenic artery aneurysm (SAA) is one of those rare diagnoses with potentially high morbidity and mortality. Case Series: This case series explores two unusual cases of postpartum SAAs. Despite differences in presentation, both patients had a ruptured SAA.  Conclusion: Often, SAAs are misdiagnosed. Early diagnosis is key, especially for the fetus. If the patient presents in shock, the expedited diagnosis and treatment can be lifesaving for both the mother and the fetus.

scholarly journals 427. Putting the ‘Eye’ in Spirochetes

2019 ◽  
Vol 6 (Supplement_2) ◽  
pp. S214-S214
Author(s):  
Sarwat Khalil ◽  
Madiha Fida ◽  
Douglas W Challener ◽  
Eugene Tan ◽  
Muhammad R Sohail ◽  
...  
Keyword(s):  
Vision Loss ◽  
Diagnostic Testing ◽  
Treponema Pallidum ◽  
Case Series ◽  
Ocular Syphilis ◽  
Presenting Symptoms ◽  
Ocular Symptoms ◽  
Ocular Findings ◽  
Elevated Protein ◽  
Number Of Patients

Abstract Background Ocular syphilis is an infrequent presentation of Treponema pallidum infection. It is often seen in association with neurosyphilis but can occur in isolation as well. Here we describe a case series of 10 patients with ocular syphilis seen at our institution. Methods Patients with a diagnosis of ocular syphilis at the three sites of Mayo Clinic were identified from June 2006 to February 2019. Patient’s baseline characteristics, clinical presentation, diagnostic testing, and treatment were abstracted from Electronic Medical Records. Results We identified 10 patients (17 eyes) during the study period, half being diagnosed in the last 5 years. The median age was 51 years (IQR 21–66), and the majority were males (7/10). Characteristics of the patients are outlined in Table 1. Common presenting symptoms included vision loss (8/10), photophobia (4/10), and irritation (5/10). Seven of 10 patients had bilateral involvement. Of the 17 eyes, 59% had pan-uveitis and 82% had disc edema (Table 2). Rapid Plasma Reagin (RPR) was positive in 9 patients and median serum RPR was 1:128 (IQR 1:2-1:1024). One patient was diagnosed with a positive TP-PA, and characteristic ocular findings. One patients had positive 16S Ribosomal RNA Gene PCR/Sanger Sequencing on vitreous humor specimen for Treponema species. The majority of patients had isolated ocular symptoms at presentation; two patients also had an associated skin rash. All patients underwent a lumbar puncture (LP). Half had pleocytosis (TNC > 5) and elevated protein elevated (mean 63.6 mg/dL), although not significantly high. 3/10 patients had VDRL positive in the CSF. Protein levels were much higher in those with positive VDRL. Each patient was treated with intravenous (IV) penicillin for at least 2 weeks. Nine patients received ocular steroids as well. At last available follow-up, 8 had complete and 1 had partial resolution. One had worsened eye findings with eventual scarring. Conclusion Our findings are congruent with increasing incidence of ocular syphilis nationwide. Bilateral eye involvement and pan-uveitis were the most common ocular findings. Although only 3 patients had a positive VDRL in the CSF, pleocytosis and elevated protein were found in a large number of patients. Majority of the patients had clinical resolution with appropriate treatment. Disclosures All authors: No reported disclosures.

Sequential Blood Purification for Pediatric Fatal Toxic Epidermal Necrolysis: A Case Series

2021 ◽  
pp. 1-8
Author(s):  
Yun Cui ◽  
Jingyi Shi ◽  
Chunxia Wang ◽  
Yiping Zhou ◽  
Fei Wang ◽  
...  
Keyword(s):  
Toxic Epidermal Necrolysis ◽  
Case Series ◽  
Pediatric Intensive Care ◽  
Skin Lesions ◽  
Daily Basis ◽  
Multiple Organ ◽  
Continuous Hemofiltration ◽  
Unsuccessful Treatment ◽  
Number Of Patients ◽  
Extracorporeal Therapy

<b><i>Background:</i></b> Extracorporeal therapy that included therapeutic plasma exchange (TPE) or continuous hemofiltration (CHF) for toxic epidermal necrolysis (TEN) syndrome was used in small number of patients. We aimed to describe the sequential mode of combined application of CHF and TPE in 3 TEN patients with multiple organ dysfunction (MODS) in pediatric intensive care unit. <b><i>Methods:</i></b> Three patients with fatal TEN received sequential CHF and TPE due to unsatisfactorily conventional treatments. CHF was initiated and performed on a daily basis with 35–50 mL/kg.h replacement fluid at the rate of 3–5 mL/kg.min blood flow. CHF was temporarily interrupted for TPE, which was performed with exchange 1–1.5-fold of one body calculated plasma volume in each section. <b><i>Results:</i></b> All 3 fatal TEN (with &#x3e;30% involvement of body surface and MODS) following unsuccessful treatment with corticosteroids and intravenous immunoglobulin. Antibiotics were suspected in the TEN-triggered drugs. The range number of TPE sessions was 3–5 and the duration of CHF was from 120 h to 202 h. After initiation of TPE and CHF, blistering with extensive epidermal necrosis halted and the skin re-epithelialized within 2 weeks. Serum C-reactive protein, procalcitonin, tumor necrosis factor-α , and interlukin-6 decreased and percentage of natural killer cells increased in surviving children. Two patients survived to discharge and one case died due to nosocomial infection with multidrug-resistant <i>Acinetobacter baumannii.</i> <b><i>Conclusion:</i></b> After sequential TPE and CHF, skin lesions and inflammatory response improved in TEN. Our result indicates extracorporeal therapy could be used as an alternative modality for fatal pediatric TEN.

scholarly journals Diagnosing Microcystin Intoxication of Canines: Clinicopathological Indications, Pathological Characteristics, and Analytical Detection in Postmortem and Antemortem Samples

Toxins ◽  
2019 ◽  
Vol 11 (8) ◽  
pp. 456 ◽  
Author(s):  
Amanda J. Foss ◽  
Mark T. Aubel ◽  
Brandi Gallagher ◽  
Nancy Mettee ◽  
Amanda Miller ◽  
...  
Keyword(s):  
Harmful Algal Bloom ◽  
Diagnostic Testing ◽  
Hepatic Necrosis ◽  
Multiple Organ ◽  
Pathological Examination ◽  
Enzyme Linked Immunosorbent Assay ◽  
Severe Thrombocytopenia ◽  
Post Exposure ◽  
Organ Systems ◽  
High Level

In the summer of 2018, six dogs exposed to a harmful algal bloom (HAB) of Microcystis in Martin County Florida (USA) developed clinicopathological signs of microcystin (MC) intoxication (i.e., acute vomiting, diarrhea, severe thrombocytopenia, elevated alanine aminotransferase, hemorrhage). Successful supportive veterinary care was provided and led to survival of all but one patient. Confirmation of MC intoxication was made through interpretation of clinicopathological abnormalities, pathological examination of tissues, microscopy (vomitus), and analytical MC testing of antemortem/postmortem samples (vomitus, blood, urine, bile, liver, kidney, hair). Gross and microscopic examination of the deceased patient confirmed massive hepatic necrosis, mild multifocal renal tubular necrosis, and hemorrhage within multiple organ systems. Microscopy of a vomitus sample confirmed the presence of Microcystis. Three analytical MC testing approaches were used, including the MMPB (2-methyl-3-methoxy-4-phenylbutyric acid) technique, targeted congener analysis (e.g., liquid chromatography tandem-mass spectrometry of MC-LR), and enzyme-linked immunosorbent assay (ELISA). Total Adda MCs (as MMPB) were confirmed in the liver, bile, kidney, urine, and blood of the deceased dog. Urinalysis (MMPB) of one surviving dog showed a high level of MCs (32,000 ng mL−1) 1-day post exposure, with MCs detectable >2 months post exposure. Furthermore, hair from a surviving dog was positive for MMPB, illustrating another testable route of MC elimination in canines. The described cases represent the first use of urine as an antemortem, non-invasive specimen to diagnose microcystin toxicosis. Antemortem diagnostic testing to confirm MC intoxication cases, whether acute or chronic, is crucial for providing optimal supportive care and mitigating MC exposure.

scholarly journals Case Series of Multisystem Inflammatory Syndrome (MIS-C) in Children during the SARS-CoV-2 Pandemic in Latvia

2021 ◽  
Vol 11 (2) ◽  
pp. 363-373
Author(s):  
Iveta Racko ◽  
Liene Smane ◽  
Lizete Klavina ◽  
Zanda Pucuka ◽  
Ieva Roge ◽  
...  
Keyword(s):  
Case Series ◽  
Multiple Organ ◽  
Special Focus ◽  
Antibody Testing ◽  
Median Hospital Stay ◽  
Organ Systems ◽  
Treatment Data ◽  
History Of ◽  
Inflammatory Syndrome

The total number of COVID-19 positive cases in Latvia has escalated rapidly since October 2020, peaking in late December 2020 and early January 2021. Children generally develop COVID-19 more mildly than adults; however, it can be complicated by multisystem inflammatory syndrome in children (MIS-C). This case study aims were to assess demographic characteristics and the underlying medical conditions, and clinical, investigative and treatment data among 13 MIS-C patients using electronic medical records. All 13 had acute illness or contact with someone who was COVID-19 positive two to six weeks before MIS-C onset. Only five of the 13 were symptomatic during the acute COVID-19 phase. The median age was 8.8 years; 11/13 patients were male, 10/13 had been previously healthy, and all 13 patients tested positive for SARS-CoV-2 by RT-PCR or antibody testing. The most commonly involved organ systems were the gastrointestinal (13/13), hematologic (13/13), cardiovascular (13/13), skin and mucosa (13/13), and respiratory (12/13) ones. The median hospital stay was 13 (interquartile range, 11 to 18) days; 7/13 patients received intensive care, 6/13 oxygen support, and 5/13 received inotropic support. No deaths occurred. During the current pandemic, every child with a fever should have a clearly defined epidemiological history of COVID-19, a careful clinical assessment of possible multiple organ-system involvement, with a special focus on children with severe abdominal pain and/or skin and mucocutaneous lesions.

Organ system effects and reinfection of COVID-19: A systematic review

2021 ◽  
Vol 9 (1) ◽  
pp. 6-6
Author(s):  
Inderbir Padda ◽  
Nimrat Khehra ◽  
Urooj Jaferi ◽  
Dina Mosabbeh ◽  
Harshan Atwal ◽  
...  
Keyword(s):  
Case Reports ◽  
Meta Analysis ◽  
Case Series ◽  
Kidney Injury ◽  
Multiple Organ ◽  
Organ System ◽  
Fulminant Myocarditis ◽  
Preventative Measures ◽  
Organ Systems ◽  
The Central Nervous System

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and its effects on the organ systems have been summarized in recent literature with predominant pulmonary characteristics as a hallmark of the COVID-19 virus. Considering its accelerated appearance from Wuhan, China, in December 2019, extrapulmonary effects have been reported globally of SARS-CoV-2 involving the central nervous system (CNS), cardiovascular, gastrointestinal, renal, and hematologic systems; thus, the potential mechanisms, pathophysiology, clinical characteristics, management, outcome, and case reports per organ system are summarized in depth. The authors interpreted articles composed of case reports, case-series, meta-analysis, cohort studies, retrospective studies, and narrative reviews focusing on COVID-19 confirmed cases and their effects on the organ systems. Prevalent clinical organ system complexities include pneumonia, acute respiratory distress syndrome (ARDS), pulmonary hypertension, pulmonary embolism, hypertension, cardiac arrhythmias, myocarditis progressing to fulminant myocarditis, anorexia, nausea, vomiting, diarrhea, liver dysfunction, encephalopathy, encephalitis, meningitis, intracerebral hemorrhage, acute kidney injury, and hypercoagulability causing stroke and disseminated intravascular coagulation (DIC). This comprehensive literature review article will help clinicians and researchers gain insight about SARS-CoV-2 and its diverse effects on multiple organ systems involved, therefore help implement prospective management and preventative measures.

scholarly journals Extracorporeal membrane oxygenation support for SARS-CoV-2: a multi-centered, prospective, observational study in critically ill 92 patients in Saudi Arabia

2021 ◽  
Vol 26 (1) ◽  
Author(s):  
Saad Alhumaid ◽  
Abbas Al Mutair ◽  
Header A. Alghazal ◽  
Ali J. Alhaddad ◽  
Hassan Al-Helal ◽  
...  
Keyword(s):  
Extracorporeal Membrane Oxygenation ◽  
Medical Records ◽  
Prospective Observational Study ◽  
Rescue Therapy ◽  
Case Series ◽  
Multiple Organ ◽  
Membrane Oxygenation ◽  
Number Of Patients ◽  
Case Series Study ◽  
Series Study

Abstract Background Extracorporeal membrane oxygenation (ECMO) has been used as a rescue strategy in patients with severe with acute respiratory distress syndrome (ARDS) due to SARS-CoV-2 infection, but there has been little evidence of its efficacy. Objectives To describe the effect of ECMO rescue therapy on patient-important outcomes in patients with severe SARS-CoV-2. Methods A case series study was conducted for the laboratory-confirmed SARS-CoV-2 patients who were admitted to the ICUs of 22 Saudi hospitals, between March 1, 2020, and October 30, 2020, by reviewing patient’s medical records prospectively. Results ECMO use was associated with higher in-hospital mortality (40.2% vs. 48.9%; p = 0.000); lower COVID-19 virological cure (41.3% vs 14.1%, p = 0.000); and longer hospitalization (20.2 days vs 29.1 days; p = 0.000), ICU stay (12.6 vs 26 days; p = 0.000) and mechanical ventilation use (14.2 days vs 22.4 days; p = 0.000) compared to non-ECMO group. Also, there was a high number of patients with septic shock (19.6%) and multiple organ failure (10.9%); and more complications occurred at any time during hospitalization [pneumothorax (5% vs 29.3%, p = 0.000), bleeding requiring blood transfusion (7.1% vs 38%, p = 0.000), pulmonary embolism (6.4% vs 15.2%, p = 0.016), and gastrointestinal bleeding (3.3% vs 8.7%, p = 0.017)] in the ECMO group. However, PaO2 was significantly higher in the 72-h post-ECMO initiation group and PCO2 was significantly lower in the 72-h post-ECMO start group than those in the 12-h pre-ECMO group (62.9 vs. 70 mmHg, p = 0.002 and 61.8 vs. 51 mmHg, p = 0.042, respectively). Conclusion Following the use of ECMO, the mortality rate of patients and length of ICU and hospital stay were not improved. However, these findings need to be carefully interpreted, as most of our cohort patients were relatively old and had multiple severe comorbidities. Future randomized trials, although challenging to conduct, are highly needed to confirm or dispute reported observations.

Cystic fibrosis - general review on sinonasal complications and case report

2017 ◽  
Vol 7 (25) ◽  
pp. 33-37
Author(s):  
Claudiu Manea ◽  
Alina Diaconescu
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Case Report ◽  
Life Expectancy ◽  
Multiple Organ ◽  
Lower Airway ◽  
General Review ◽  
Organ Systems ◽  
Sinonasal Disease

Abstract An irreversible disease, cystic fibrosis (CF), is responsible for affecting multiple organ systems containing epithelia. It is well known that the sinonasal disease caused by CF has consequences for the incidence of the lower airway exacerbations, as well as affecting the quality of life of those patients. This review provides an update by evaluating the available literature regarding pathogenesis, management and treatment of cystic fibrosis patients. To gain a better view of the disease and obtain a higher life expectancy, further studies are needed.

scholarly journals Olfactory and Oral Manifestations of COVID-19: Sex-Related Symptoms—A Potential Pathway to Early Diagnosis

2020 ◽  
Vol 163 (4) ◽  
pp. 722-728 ◽  
Author(s):  
Ameen Biadsee ◽  
Ameer Biadsee ◽  
Firas Kassem ◽  
Or Dagan ◽  
Shchada Masarwa ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Nasal Congestion ◽  
Case Series ◽  
Initial Symptom ◽  
Clinical Approach ◽  
Runny Nose ◽  
Number Of Patients ◽  
Case Series Study ◽  
Initial Symptoms ◽  
Common Combination

Objective The coronavirus disease 2019 (COVID-19) pandemic poses a threat to global health. Early diagnosis is an essential key to limit the outbreak of the virus. Study Design Case series, study conducted between March 25, 2020, and April 15, 2020. Setting Ambulatory, nonhospitalized patients who were quarantined in a designated hotel for COVID-19 patients and were recruited by an advertisement at the hotel. Subjects and Methods In total, 140 patients participated in a web-based questionnaire assessing initial symptoms of common viral diseases, olfactory and taste functions, xerostomia, and orofacial pain. Results A total of 58 men and 70 women participated. Initial symptoms were cough (59.4%), weakness (47.7%), myalgia (46.9%), fever (42.2%), headache (40.6%), impaired sense of smell (38.3%), impaired sense of taste (32.8%), sore throat (26.6%), runny nose (26.6%), and nasal congestion (22.7%). All symptoms were more frequent among women; however, only runny nose was statistically significant ( P = .018). The most common combination of symptoms was cough and weakness (37.5%). A total of 25.8% reported olfactory and taste dysfunctions in the absence of other symptoms. In a comparison between the sexes, cough and runny nose were the most common combination in women ( P = .018). A total of 38.3% of patients reported olfactory dysfunction as an initial symptom. Anosmia and facial pain were more common among women ( P < .001 and P = .01, respectively), and 56% of patients reported xerostomia. Conclusion A considerable number of patients presented with olfactory and oral disorders. Interestingly, women presented with a different cluster of symptoms than men, which may suggest a new clinical approach to diagnosing COVID-19 disease.

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