Argyria is the chronic accumulation of silver in biological tissues such as skin, liver, kidneys, lungs, peripheral nerves, and brain. The presence of an actual pathophysiological and clinical correlate related to silver encephalic and peripheral nerve deposition is still much debated. In this paper, we reviewed and described case reports regarding argyria associated with neuropsychiatric symptoms in order to explain the underlying mechanism of the disease. We conducted a narrative review by searching for case reports that described subjects with chronic silver accumulation and who had associated neurological or psychiatric symptoms. Moreover, we report a case of a 50-year-old man admitted to our hospital with a diagnosis of major depression who presented with worsening psychiatric symptoms after abuse of silver-containing nasal spray. We found 15 cases of patients with argyria and neuropsychiatric manifestations such as epilepsy, neurodegenerative syndromes, multiple sclerosis, peripheral neuropathy, and psychiatric disorders. The knowledge of possible pathogenetic mechanisms and recognition of clinical features of argyria can help clinicians prevent brain deposition and its complications.

Pancreatoblastoma (PB), a neoplasm derived from pancreatic follicular cells, primarily affects the pediatric population. Although infrequent in adults, it is associated with a considerably worse prognosis. Approximately one-third of patients are diagnosed with metastatic disease, with liver metastases being the most prevalent. Diagnosis relies on histopathological alterations including squamous vesicles, positive staining for CK8/CK18/CK19, and nuclear displacement of β-catenin. Additionally, liver metastases demonstrate substantial enhancement during the arterial phase of a contrast-enhanced computed tomography (CT) scan. Surgical resection serves as the principal therapeutic approach for addressing primary lesions and liver metastatic PB. In instances where surgical intervention is not viable, patients may derive benefits from systemic therapy and radiotherapy. This particular case report presents the clinical details of a 27-year-old female patient diagnosed with PB, who subsequently developed multiple liver metastases following a pancreaticoduodenectomy. Genomic examinations revealed the presence of ERBB2 amplification, RAD54L deletion, low TMB-L, and MSS in the patient. Despite the patient undergoing chemotherapy and Her-2 targeted therapy in conjunction with immunotherapy, no reduction in lesion size was observed until the administration of surufatinib. Subsequently, a notable outcome ensued, where the metastatic lesions were effectively excised via surgical intervention. Surufatinib has demonstrated a progression-free survival (PFS) of no less than 14 months, and the patient\'s survival has endured for a duration of 33 months. This indicates the potential efficacy of surufatinib as a viable therapeutic alternative for adult patients afflicted with PB.

BACKGROUND: The informal caregivers of adult patients with β-thalassemia major (β-TM) bear not only physical but also emotional and economic pressures of providing care. This study is the first to evaluate the caregiver burden by Zarit Burden Interview (ZBI) of adult patients with β-TM in mainland China and to identify predictors of caregiver burden.
METHODS: In this cross-sectional study, we conducted an online survey with snowball sampling covering seven provinces between September 1, 2021, and January 31, 2022, of patients aged ≥ 18 years with β-TM and their informal caregivers. Caregiver burden was assessed using the ZBI. Data on patient demographics, disease and therapy characteristics, and informal caregivers\' demographic characteristics were collected and analysed using independent t-tests, analysis of variance, Spearman\'s correlation and multiple linear regression.
RESULTS: Of 75 included patients, more than half (50.7%) were male. The mean patient age was 24.69 ± 5.59 years. The mean age of the informal caregivers was 50.60 ± 9.16 years, with women (74.7%) being predominant. The ZBI score was 38.00 ± 17.02. Multiple linear regression analysis showed that patients with interrupted blood transfusion therapy and informal caregivers required to care of others were positively associated with caregiver burden (p < 0.05). Age of informal caregivers were borderline significant positively associated with caregiver burden (p < 0.1). Married informal caregivers were negatively associated with caregiver burden (p < 0.05).
CONCLUSIONS: The informal caregivers of adult patients with β-TM in mainland China experienced a moderate-to-severe level of caregiving burden. The caregiver burden was higher in patients with a history of interrupted blood transfusion therapy or in informal caregivers who were older or needed to care for others. Additionally, married informal caregivers experienced lower burdens compared to non-married informal caregivers. These findings provide a reference to identify informal caregivers with higher burdens among patients with β-TM.

Hepatocyte nuclear factor 1β (HNF1β) is essential for biliary development, while its genetic defect triggers the dysplasia of interlobular bile ducts, leading to life-threatening hepatitis and cholestasis. To date, this disorder has mainly been documented in neonates. Here, we report a case of cholestasis in an adult patient caused by a de novo HNF1β mutation. A liver biopsy revealed remarkable shrinkage of the portal area accompanied by a decrease or absence of interlobular bile ducts, veins, and arteries in the portal area. Our case showed that an HNF1β defect could induce late-onset cholestasis with paucity of the portal area in adulthood.

Lymphangiomas are congenital malformations. Swellings in the cheek may arise from infection, cyst and tumors.Pathological lesions are not always confined to its common site and age of occurrence. Occurrence of lymphangioma in buccal mucosa especially in adults are very rare. Exact knowledge about anatomy and nature of lesion is mandatory for its complete removal as incomplete removal results in recurrence. Herewith,a rare case of recurrent lymphangioma involving left buccal mucosa in an adult is presented with its management. Emphasis is laid on the necessity of combined approach through multidisciplinary team while treating such lesions.

UNASSIGNED: Nowadays, whole-exome sequencing (WES) analysis is an essential part in the diagnostic pathway of individuals with complex phenotypes when routine exams, such as array-CGH and gene panels, have proved inconclusive. However, data on the diagnostic rate of WES analysis in adult individuals, negative to first-tier tests, are lacking. This is because initiatives with the aim of diagnosing rare diseases focus mainly on pediatric unsolved cases.
UNASSIGNED: We hereby present a 45-year-old woman with severe intellectual disability, previous psychomotor developmental delay, behavioral disorders, stereotypies, nonconvulsive epilepsy, and dysmorphisms. The proband first came to our attention when she was 4 years old (in 1982); since then, she has undergone several clinical and instrumental assessments, without reaching a genetic diagnosis. At last, through WES analysis, a novel de novo variant in SYNGAP1 was found. The clinical characteristics associated with SYNGAP1 are similar to those presented by the proband.
UNASSIGNED: The variant is predicted to be deleterious and is most probably the cause of the proband\'s phenotype. The perseverance of the clinicians and the family allowed us to reach a diagnosis in a woman with a more than 30-year history of clinical evaluations, instrumental assessments, and genetic tests. This diagnosis was of significant relevance in genetic counseling for family members and the proband herself.

The patent ductus arteriosus (PDA) refers to the persistence of a connection between the descending aorta distal to the left subclavian artery and the pulmonary trunk beyond fetal life. Adult congenital heart disease is a rare condition, with asymptomatic cases being particularly uncommon. The following report presents the case of a young adult male, aged 23, who was discovered to possess a patent ductus arteriosus in an incidental manner. The patient presented with an acute chest complaint and was found to be asymptomatic upon examination at the hospital. Based on the preliminary medical information provided, a tentative diagnosis of a ventricular septal defect was established. However, a comprehensive echocardiographic examination revealed the presence of a patent ductus arteriosus (PDA).

β-thalassaemia major poses a substantial economic burden, especially in adults. We aimed to estimate the economic burden of adult patients with β-thalassaemia major from a societal perspective using the real-world data. According to the clinical guideline, we also estimated the annual medical costs for patients with the same body weight and calculated the lifetime medical costs over 50 years in mainland China.
This was a retrospective cross-sectional study. An online survey with snowball sampling covering seven provinces was conducted. We extracted patient demographics, caregiver demographics, disease and therapy information, caring burden, and costs for adult patients diagnosed with β-thalassaemia major and their primary caregivers. In the real world, we estimated the annual direct medical cost, direct nonmedical cost, and indirect cost. In addition, we calculated the annual direct medical cost and lifetime direct medical cost by weight with discounted and undiscounted rates according to the clinical guideline.
Direct medical costs was the main driver of total cost, with blood transfusion and iron chelation therapy as the most expensive components of direct medical cost. In addition, adult patients with β-thalassaemia major weighing 56 kg were associated with an increase of $2,764 in the annual direct medical cost using the real-world data. The undiscounted and discounted (5% discount rate) total lifetime treatment costs were $518,871 and $163,441, respectively.
Patients with β-thalassaemia major often encounter a substantial economic burden in mainland China. Efforts must be made to help policymakers develop effective strategies to reduce the burden and pevalence of thalassaemia.

COVID-19 is a global pandemic caused by a novel zoonotic RNA virus named SARS-CoV-2. Various cutaneous manifestations associated with COVID-19 have been described, including urticarial rash, confluent erythematous rash, papulovesicular exanthem, chilblain-like acral pattern, livedo reticularis, and purpuric vasculitis pattern. Here, we are presenting a case of a 45-year-old male with mucocutaneous features of Stevens-Johnson syndrome.

Appendicitis is one of the common diseases, and appendectomy is one of the most commonly performed procedures. Single atrium and single ventricle are rare heart diseases, and very few patients survive to adulthood. We report a patient with single atrial and single ventricles undergoing appendectomy with transverse abdominis plane block and dexmedetomidine sedation anesthesia with smooth postoperative appendectomy.