Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of the disease and the variability of clinical presentation. Short stature and impaired growth velocity are frequent findings in MPS Ia, but they rarely raise suspicion as paediatric endocrinologists are generally poorly trained to detect earlier and milder clinical signs of this condition. Materials and Methods: Following a consensus-based methodology, a multidisciplinary panel including paediatric endocrinologists, paediatricians with expertise in metabolic disorders, radiologists, and rheumatologists shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth. Results: The result was the formation of an algorithm that illustrates how to raise the suspicion of MPS Ia in a patient older than 5 years with short stature and suggestive clinical signs. Conclusion: The proposed algorithm may represent a useful tool to improve the awareness of paediatric endocrinologists and reduce the diagnostic delay for patients with MPS Ia.

Education and Information Need for Emergency Physicians About Rare Diseases in China

Background: Rare diseases are serious and chronic disease that affect no more than 1 person in 2000. The patients suffering from RD may come to emergency department for life-threatening symptoms, such as acute aortic dissection, intracranial hemorrhage, and severe respiratory distress. Diagnostic delay of rare disease patients is common and often caused by low rare disease awareness among physicians. The main aim of this study was to investigate the Chinese emergency physicians’ basic knowledge, information access and educational needs regarding rare diseases. An online questionnaire was completed by Chinese emergency physicians during January and March 2021. Methods and Results: A total of 539 emergency physicians responded to the questionnaire-based study, including 200 females and 339 males. More than half of respondents were from Tertiary A hospital and had engaged in medical clinical work more than 10 years. Only 4.27% of respondents correctly estimated the prevalence of rare diseases. A few respondents knew the exact number of RD in the first official list of rare diseases in 2018. 98.5% of respondents rated their knowledge about rare diseases as rare or insufficient. Most of emergency physicians preferred to getting information by search engine instead of specialized websites of rare diseases. Lack of practice guidelines or consensus and were considered as the most important reason for diagnostic delay of RD. Practice guidelines or consensus and professional websites on rare diseases were urgently needed for emergency physicians.Conclusion: The investigation shows poor knowledge of emergency physicians regarding rare diseases. Practice guidelines and professional websites on rare diseases were the prominently urgent needs for emergency physicians. Specialized RD courses should also be added in medical education.

Advances in lung cancer diagnosis and treatment - a review

Lung cancer is the second and third most common cancer in Iceland for females and males, respectively. Although the incidence is declining, lung cancer still has the highest mortality of all cancers in Iceland. Symptoms of lung cancer can be specific and localized to the lungs, but more commonly they are unspecific and result in significant diagnostic delay. Therefore, majority of lung cancer patients are diagnosed with non-localized disease. In recent years, major developments have been made in the diagnosis and treatment of lung cancer. Positive emission scanning (PET) and both transbroncial (EBUS) or transesophageal ultrasound (EUS) biopsy techniques have resulted in improved mediastinal staging of the disease and minimal invasive video-assisted thoracic surgery (VATS) has lowered postoperative complications and shortened hospital stay. Technical developments in radiotherapy have benefitted those patients who are not candidates for curative surgery. Finally, and most importantly, recent advances in targeted chemotherapeutics and development of immunomodulating agents have made individual tailoring of treatment possible. Recent screening-trials with low-dose computed tomography show promising results in lowering mortality. This evidence-based review focuses on the most important developments in the diagnosis and treatment of lung cancer, and includes Icelandic studies in the field.

Total, Patient and System Diagnostic Delays for Pulmonary Bacilliferous Tuberculosis in the Six Diagnostic and Treatment Centers in the Five Health Districts of the Central Region, Burkina Faso, 2018

Introduction Long diagnosis delay contributes significantly to the failure to eradicate tuberculosis. The objective of this study was to evaluate the total, patient and system delays in diagnosis of pulmonary bacilliferous in the six tuberculosis Diagnostic and Treatment Centers in the five health districts of the central region in Burkina Faso. Methods A descriptive cross-sectional study was conducted among 384 microscopy-positive pulmonary tuberculosis patients in 2018 to address this objective. It concerned the socio-demographic, clinical, microbiological characteristics, and referral location/pathway characteristics of the patients. We then calculated the different delays. The “patient” (time from first symptoms to first consultation), “system” (time from first consultation to first diagnosis) and total (time from first symptoms to diagnosis) median diagnostic delay were estimated. Results The median “total”, “patient” and “system” diagnostic times were 37, 21 and 7 days, respectively. Of the 384 patients surveyed, 158 patients or 41.25% of patients had a long total diagnostic delay (> 45 days). The number of patients with a long system diagnostic delay was 125 patients (32.55%; p < 0.001) and those with a long patient diagnostic delay were 105 patients (27.34%; p < 0.001). Conclusion The total diagnosis delay of pulmonary tuberculosis was long for almost half of the patients. Awareness of the signs of tuberculosis among patients and caregivers, and consultation in a health center must be intensified to help considerably reduce these delays.

A rare case of ovarian torsion in a pregnant patient

Torsion of the ovary is the total or partial rotation of the adnexa around its vascular axis or pedicle. It is an uncommon cause of acute abdominal pain in females, and it is a gynecologic emergency. The majority of the cases present in the pregnant (22.7%) than in non-pregnant (6.1%) women. Diagnostic delay can result in loss of the ovary. This twisting initially obstructs venous flow, which causes engorgement and edema. The engorgement can progress until arterial flow is also compromised, leading to ischemia and infarction. The increased use of ovarian stimulation and assisted reproductive technology has led to an increase in the risk of adnexal torsion, particularly in pregnant women or women with ovarian hyperstimulation syndrome (OHSS). The differential diagnosis of adnexal torsion is particularly difficult in combination with OHSS or pregnancy, as abdominal pain, nausea and vomiting can be presenting symptoms of hyperstimulation or pregnancy as well. Here, we report a case of ovarian torsion occurring in pregnancy in which diagnostic delay occurred due to confusion with OHSS leading to oophorectomy. Fertility conservation may have been possible in case of earlier diagnosis and prompt treatment.

An autopsy case of pulmonary arterial hypertension in an elderly patient with multimorbidity: a case report

Background There is an increasing number of elderly patients with pulmonary arterial hypertension, and their characteristics differ from those of young or middle-aged patients with this condition. Case Summary A 73-year-old woman with a history of myocardial infarction and cardiovascular risk factors was admitted to the hospital with 2-week exertional dyspnoea. Her initial diagnosis was heart failure with preserved ejection fraction, but the symptoms persisted despite receiving treatment with diuretics. Additional tests showed a significant decrease in diffusing capacity of carbon monoxide and findings suggestive of severe pulmonary hypertension. Contrast-enhanced computed tomography of the chest, and pulmonary angiography, showed no narrowing or obstruction of the pulmonary arteries. Right heart catheterization revealed hemodynamic data implying pre-capillary pulmonary hypertension. Her condition gradually deteriorated to World Health Organization functional class IV, and sequential combination therapy with tadalafil, macitentan, and selexipag was initiated with a pulmonary arterial hypertension diagnosis; however, she died 1 month later. Pathological findings in autopsy were consistent with pulmonary arterial hypertension, and some parts of the lungs revealed the presence of obstructive and interstitial lung disease. Discussion The majority of elderly patients with pulmonary arterial hypertension might have multimorbidity. However, there is no specific treatment strategy. It is associated with diagnostic delay and worse prognosis; therefore, early suspicion and comprehensive tests, including right heart catheterization, are essential for better management.

Inflammatory Nasal Swelling due to Leishmania tropica

Since its discovery in the 19th century, cutaneous leishmaniasis has been a major public health problem, especially with the appearance of more and more unusual cases of cutaneous lesions due to this parasite. Indeed, the present study joins the previous studies and describes a typical case of a nasal lesion due to Leishmania infection. This is a 20-year-old young man, with no particular pathological history, from an epidemic focus who presented with inflammatory nasal swelling similar to a mucocutaneous form. However, the X-ray data showed that no lysis of the bones proper to the nose was detected and no damage to the underlying mucosa was observed. Nevertheless, the parasitological diagnosis confirmed the presence of amastigotes, and the results of the molecular study showed that the electrophoretic profile was comparable to that of L. tropica. After diagnosis and confirmation, treatment with meglumine antimonate at the rate of two ampoules/injection (one ampoule = 5 ml) of antimony salt for one month was administered intramuscularly with favorable outcome. Atypical forms of cutaneous leishmaniasis constitute a rare and unusual entity often leading to diagnostic delay. For this, the clinical examination must take into account both exceptional presentations of Leishmania infection, in particular in subjects living or having stayed in an endemic area, in order to ensure appropriate and early treatment.

Spanish version of the Frontotemporal Dementia Knowledge Scale: adaptation and validation

ABSTRACT Background: Frontotemporal dementia (FTD) is a neurodegenerative disease and is one of the most common causes of dementia in people under 65. There is often a significant diagnostic delay, as FTD can be confused with other psychiatric conditions. A lack of knowledge regarding FTD by health professionals is one possible cause for this diagnostic confusion. Objectives: The aim of this study was to adapt and validate the Frontotemporal Dementia Knowledge Scale (FTDKS) in Spanish. Methods: A translation was done, following cross-cultural adaptation guidelines, which consisted of forward translation, blind back translation, and an analysis by a committee of experts. For the present study, 134 professionals from different health areas responded the Spanish version of the FTDKS. The statistical analysis was performed using R version 4.0.0 “Arbor day” and the Psych, sjPlot packages. Results: The Spanish version of the FTDKS had good reliability and internal consistency (Cronbach alpha 0.74.). The sample's mean score was 19.78 (range = 4-32, SD 6.3) out of a maximum of 36 points. Conclusions: The results obtained show that the Spanish version has good psychometric properties. The FTDKS is applicable in our environment and can be a useful tool to evaluate the knowledge of health professionals regarding frontotemporal dementia.