first case delays

BACKGROUND: The Koolen-de Vries syndrome (KdVS) is a relatively new rare disease caused by micro-deletion of 17q21.31 which was first reported by Koolen in 2006. Typical phenotypes for KdVS include hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Up to now, there was only one case report about anesthesia management of patient diagnosed KdVS. It was a 2-year-old girl who experienced an MRI exam under anesthesia. CASE PRESENTATION: We described a 21-month-old boy who planned to undergo an orchidopexy under general anesthesia diagnosed with KdVS...

DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare genetic disorder caused by pathogenic variants in the WAC gene. This syndrome is characterized by a wide range of physical and neurological symptoms including dysmorphic features, developmental delay, intellectual disability, and behavioral abnormalities. DESSH was described by DeSanto in 2015, and since then, only a few dozen cases have been reported worldwide. Recent research has focused on identifying the underlying genetic cause of the syndrome as well as exploring potential treatments...

TRAF7 -related disorders represent some of the rarest inherited disorders, exhibiting clinical features that overlap with cardiac, facial, and digital anomalies with developmental delay (CAFDADD) syndrome, as well as blepharophimosis-mental retardation syndrome (BMRS). A 36-year-old male, presenting with total blindness, blepharophimosis, and intellectual disability, was admitted for the assessment of resting dyspnea several months previously. He had a history of being diagnosed with obstructive sleep apnea (OSA)...

Developmental dysplasia of the hip (DDH) presents varying degrees of femoral head dislocation, with severe cases leading to the formation of a new articular surface on the external side of the iliac bone-the neoacetabulum. Despite conventional understanding suggesting otherwise, a tissue resembling hyaline cartilage is found in the neoacetabulum and acetabulum of Crowe III and IV patients, indicating a potential for hyaline cartilage development without mechanical pressure. To test this theory, acetabular and femoral head cartilage obtained from patients with DDH was stained with hematoxylin-eosin and toluidine blue...

Classifying the flow subsequences of sensor networks is an effective way for fault detection in the Industrial Internet of Things (IIoT). Traditional fault detection algorithms identify exceptions by a single abnormal dataset and do not pay attention to the factors such as electromagnetic interference, network delay, sensor sample delay, and so on. This paper focuses on fault detection by continuous abnormal points. We proposed a fault detection algorithm within the module of sequence state generated by unsupervised learning (SSGBUL) and the module of integrated encoding sequence classification (IESC)...

BACKGROUND: The clinical presentation of left ventricular free wall rupture (LVFWR) varies ranging from uneventful condition to congestive heart failure. Here we report two cases of LVFWR with different clinical presentation and notable outcome. A 53-year-old male presenting emergently with signs of myocardial infarction received immediate coronary angiography and thoracic CT-scan showing occlusion of the first marginal coronary branch without possibility of revascularization and minimal pericardial extravasation...

BACKGROUND: Netherton syndrome, a rare autosomal recessive genetic disease, lacks effective treatment options. This article presents a novel case of successful Upadacitinib therapy in a 14-year-old boy with Netherton syndrome. CASE PRESENTATION: A 14-year-old male with a lifelong history of dry skin, erythema, scaling, itching, and notable body odor was evaluated. These symptoms, accompanied by irregular hair growth and delayed development, prompted an initial diagnosis of atopic dermatitis at a local hospital...

Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, and congenital heart defects. We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c...

BACKGROUND: We defined clinically relevant benchmark values in deceased donor kidney transplantation (KT), to assess the best achievable results in low-risk patient cohorts from experienced centers. METHODS: We identified the "ideal" cases from the United Network for Organ Sharing Standard Transplant Analysis and Research files from centers performing ≥50 KT per year between 2010 and 2018. Cases have been selected based on the kidney donor profile index values (<35%), a cold ischemia time (CIT) ≤18 h, a HLA mismatch ≤4, and excluding blood group (ABO) incompatible, dual and combined transplants...

CONTEXT: Adolescent suicides are a significant public health concern in India and understanding the intersecting perspectives becomes imperative for the prevention of various mental health concerns. AIM: Assessing perceptions of various key stakeholders, that is, mental health experts, school and college teachers, and District Mental Health Program staff about peer-led strength building programs for suicide prevention. SETTINGS AND DESIGN: A cross-sectional qualitative design using two Focus Group Discussions (FGDs) with mental health experts and teachers and one FGD with DMHP staff was conducted...

BACKGROUND: Failure to achieve timely arteriovenous fistulae (AVF) utilization due to excessive depth (>6mm) remains an ongoing concern for dialysis access. This study evaluates the outcomes of radio cephalic (RCF) and brachiocephalic (BCF) fistula elevation required for access utilization. METHODS: A retrospective review of all patients undergoing first-time autologous access over 10 years was undertaken. RCF and BCF were analyzed, and cases of initial access failure due to depth alone were selected for study...

Severe burn injuries pose diagnostic challenges, contributing to increased fatality rates with delayed diagnoses. This study aims to identify early risk factors and understand their impact on clinical outcomes by examining hematological dynamics in severe burn cases. The focus includes age-related patterns, Total Body Surface Area (TBSA) affected by burns, hospital stay duration, and changes in hematological markers during burn injuries. An analytical cross-sectional study at the Burn Care Centre involved 135 participants hospitalized between January 2018 and December 2021...

First rib stress fractures are uncommon in athletes and diagnosis requires a high degree of clinical suspicion. Diagnostic delay may increase risk of poor healing and long-term complications. Case reports and series describe these injuries primarily in overhead athletes; proposed contributing factors include anatomic susceptibility to stress and repetitive opposing muscular forces. We describe an ice hockey goalie with acute-on-chronic thoracic back pain who was found to have a first rib stress fracture, which to our knowledge is the first reported in this sport...

INTRODUCTION: The COVID-19 pandemic had collateral effects on many health systems. Cancer screening and diagnostic tests were postponed, resulting in delays in diagnosis and treatment. This study assessed the impact of the pandemic on screening, diagnostics and incidence of breast, colorectal, lung, and prostate cancer; and whether rates returned to pre-pandemic levels by December, 2021. METHODS: This is a cohort study of electronic health records from the United Kingdom (UK) primary care Clinical Practice Research Datalink (CPRD) GOLD database...

BACKGROUND: Tracheobronchial schwannomas are extremely rare, which account for lower than 0.2% in all pulmonary tumors. In large part because of the rarity and insufficient reported clinical details, tracheobronchial schwannoma lacks guidelines or expert consensus for diagnosis and treatment, and the delay in diagnosis can range from months to years. The main treatment option is surgery. Endoscopic intervention can also be selected. An increasing number of thoracic surgery cases were performed on the robotic platforms in recent years...

Mechanical prosthetic valve thrombosis (PVT) and obstruction are rare and dangerous events often related to inappropriate anticoagulant therapy. High mortality rates occur because of delayed diagnosis, hemodynamic instability, multiple organ failure (MOF), and high perioperative risk. Surgical repair is a first-line treatment for obstructive PVT with hemodynamic instability but is often not readily available or safely performed. Venoarterial extracorporeal membrane oxygenation (VA ECMO) support has been increasingly used in patients with PVT and cardiorespiratory collapse, allowing MOF reversal and safer deferred surgery...

INTRODUCTION: In the context of Indian combat scenario, maxillofacial injuries from gunshots are uncommon. METHODS: The first section of this study is a case report of a rare instance of metal foreign bodies that were lodged in the parapharyngeal space, deeper to the deep lobe of the parotid right next to the carotid space in the neck. The second section focusses on the unique treatment for blast injuries as well as the variety of imaging procedures that are readily available to assist with surgery, such as plain film, CT, angiography, and occasionally MR imaging...

IMPORTANCE: Access to COVID-19 testing is critical to reducing transmission and supporting early treatment decisions; when made accessible, the timeliness of testing may also be an important metric in mitigating community spread of the infection. While disparities in transmission and outcomes of COVID-19 have been well documented, the extent of timeliness of testing and the association with demographic factors is unclear. OBJECTIVES: To evaluate demographic factors associated with delayed COVID-19 testing among health care personnel (HCP) during the COVID-19 pandemic...

UNLABELLED: Treatment decisions for tuberculosis (TB) in the absence of full drug-susceptibility data can result in amplifying resistance and may compromise treatment outcomes. Genomics of Mycobacterium tuberculosis ( M.tb ) from clinical samples enables detection of drug resistance to multiple drugs. We performed whole-genome sequencing (WGS) for 600 clinical samples from patients with tuberculosis to identify the drug-resistance profile and mutation spectrum. We documented the reasons reported by clinicians for referral...

We present the first published case of simultaneous pneumonitis and immune thrombocytopenic purpura secondary to primary cytomegalovirus (CMV) infection in an immunocompetent patient. Treatment with oral valganciclovir for 2 weeks successfully led to complete clinical recovery. CMV is traditionally associated with infection in immunocompromised patients and neonates; however, evidence of severe CMV infections in immunocompetent hosts is emerging. It is important to highlight the broad range of clinical presentations of CMV infections to prevent diagnostic delay and associated morbidity and expense...