von Hippel-Lindau (VHL) disease is a rare autosomal dominant multiorgan disease characterized by several benign and malignant tumors rich in vascular, as well as cysts in other organs. A great clinical treatment strategy is significantly warranted for good prognosis of patients with VHL disease. Herein, we reported a case of a 45-year-old woman diagnosed with VHL disease with spinal hemangioblastoma (HB) and clear cell renal cell carcinoma (ccRCC). Four years after the resection of the right kidney, a recurrent RCC in the right kidney and a malignant lesion in the left kidney were observed. This patient was started on sorafenib (800 mg, daily) and tislelizumab (200 mg per 3 weeks). After 6 months of treatment, the size of renal cell carcinoma was dramatically reduced and renal function improved. More importantly, she achieved partial response during the whole treatment. Microscopically, intramedullary masses resection was done and the HB in T4-5 thoracic spinal was removed. Neurologic symptoms such as numbness and pain were remarkably alleviated. Additionally, tislelizumab-induced elevation in liver transaminase levels and hypothyroidism were revered by hepatoprotector and levothyroxine, respectively. In short, comprehensive treatment strategies may benefit patients with VHL disease, especially with HB and ccRCC.

Primary non-cutaneous melanoma is a rare type of melanoma that occurs mostly on mucosal surfaces. The head and neck region is the most common site for these melanomas. The following cases described herein include patients diagnosed with primary non-cutaneous melanomas. The locations included the parotid gland (one case), the submandibular gland (one case), and the nasal cavity and paranasal sinuses (three cases). Among these patients, one patient developed lymph node metastasis and one patient had distant metastasis. Treatment included endoscopic surgery (one case), endoscopic surgery with adjuvant radiotherapy (one case), open surgery (one case), and palliative chemotherapy (one case). One patient refused to receive treatment. After treatment, one patient had local recurrence. A local and distant recurrence was noted in one case. This report aims to describe clinical features, treatment options, and prognosis of primary non-cutaneous melanomas of the head and neck.

UNASSIGNED: Charcot arthropathy consists of a rapid and destructive complication of the joints following the loss of innervation caused by many complicated etiologies. Diabetic neuropathy has become the most common etiological factor.
UNASSIGNED: We present a case of a 64-year-old female patient with a history of chronic renal failure on hemodialysis, hypertension, hypothyroidism, and Type 2 diabetes, complicated with neuropathy and Charcot disease, who referred to our department. Initially, the patient was managed with a restraint orthotic device due to a bimalleolar ankle fracture. An unsuccessful treatment and the presence of a pressure ulcer with pus-like drainage on the lateral malleolus 2 months later led to the decision for a below-knee amputation.
UNASSIGNED: High clinical suspicion by the attending physician may reduce the risk of complications and lead to proper treatment with better outcomes.

SARS-CoV-2 (COVID-19) has been associated with numerous complications, including autoimmune and autoinflammatory diseases. The surge of cytokines following COVID-19 infection or vaccination has been proposed to contribute to immune dysregulation, which might subsequently give rise to an autoinflammatory syndrome. Adult-onset Still\'s disease (AOSD) is one of the rare autoinflammatory diseases characterized by a surge of cytokines. Although an association between COVID-19 vaccines and AOSD has been reported, an association with COVID-19 infection or nirmatrelvir/ritonavir remains very rare. In this case, we present a patient who developed AOSD after COVID-19 infection and subsequent treatment with nirmatrelvir/ritonavir. After the initial response to glucocorticoids, canakinumab was initiated, resulting in positive clinical outcomes.

OBJECTIVE: Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) remains an enigma with no curable treatment options at hand. Although patients with ME/CFS are a heterogeneous group, a large proportion of patients present with an infection-driven symptomatology, making them potential responders to immunologic treatments, such as immunoglobulin (IG). Previous studies on IG treatment in patients with ME/CFS have not been consistent but have described beneficial effects in subgroups of patients.
METHODS: Here we present data on a series of cases (n = 17) with infection-related ME/CFS (as defined by disease history and ongoing recurrent infections) treated with subcutaneous low-dose IG (0.06 g/kg/mo) over 5 weeks with continuous monitoring of symptoms.
RESULTS: Patients were predominantly female (65%) with mild-to-moderate disease severity (82%) and with poor self-reported quality of life (median, 25 on a 0-100 scale) and working ability (median, 5 on a 0-100 scale) before treatment. After 5 weeks of treatment with low-dose IG, significant improvements in symptoms, quality of life, and working ability were noted (all P < 0.05). Among the 7 patients who reported the highest benefit of the treatment, quality of life increased by 35 units (on a 0-100 scale), with 1 patient reporting complete elimination of ME/CFS symptoms. No serious side effects were detected with the treatment.
CONCLUSIONS: In this limited-sized case series, we found pronounced beneficial effects of low-dose IG in a large proportion of patients with infection-related ME/CFS. Further well-controlled studies are needed to verify the potential benefits of IG treatment in patients with ME/CFS with infection-driven symptomatology.

BACKGROUND: Pulmonary arteriovenous malformation (PAVM), also known as pulmonary arteriovenous fistula, is a rare vascular developmental anomaly. Most cases of PAVM are associated with hereditary hemorrhagic telangiectasia (HHT). Hemothorax associated with PAVM is even rarer, and management concerning this complication still challenges.
METHODS: A 55-year-old man with sudden onset of dyspnea and chest pain was admitted to our hospital. He had a medical history of epistaxis, intraperitoneal germ cell tumor and PAVM. Chest unenhanced CT revealed the left-sided pleural effusion together with partial passive atelectasis and gradual increase at the interval of six days. Diagnostic thoracocentesis further revealed hemorrhagic effusion. CT angiography (CTA) showed tortuously dilated lumen of the left lower pulmonary artery and PAVM with the formation of aneurysm. Due to his family\'s refusal of surgery, the patient underwent transcatheter embolization therapy. However, the left pleural effusion did not significantly reduce and there was a slow drop in hemoglobin value even after interventional treatment, indicating the possibility of ongoing active bleeding. Eventually, the patient received lobectomy of the left lower lobe with a satisfactory outcome.
CONCLUSIONS: Massive hemothorax resulting from PAVM rupture into the pleural space can lead to fatal outcomes. CTA can accurately diagnose this pathologic condition. Transcatheter embolization is frequently used in the treatment of PAVM, but it may be challenging to achieve the desirable effect in patients with hemothorax. Combined with our case and literature review, direct radical surgery can lead to a successful outcome when PAVM complicated with hemothorax and a large diameter of the draining vein.

暂无摘要。

BACKGROUND: Rectal mucosal melanoma is a rare and highly aggressive disease. Common symptoms include anal pain, an anal mass, or bleeding. As such, the disease is usually detected on rectal examination of patients with other suspected anorectal diseases. However, due to its rarity and nonspecific symptoms, melanoma of the rectal mucosa is easily misdiagnosed.
METHODS: This report describes the case of a 58-year-old female patient who presented with a history of blood in her stool for the prior one or two months, without any identifiable cause. During colonoscopy, a bulge of approximately 2.2 cm × 2.0 cm was identified. Subsequently, the patient underwent endoscopic ultrasound (EUS) to characterize the depth of invasion of the lesions. EUS suggested a hypoechoic mucosal mass with involvement of the submucosal layer and heterogeneity of the internal echoes. Following surgical intervention, the excised tissue samples were examined and confirmed to be rectal malignant melanoma. The patient recovered well with no evidence of recurrence during follow-up.
CONCLUSIONS: This case shows that colonoscopy with EUS and pathological examination can accurately diagnose rare cases of rectal mucosal melanoma.

BACKGROUND: the mortality associated with severe malaria due to Plasmodiun falciparum remains high despite improvements in malaria management. Case prensentation: this case series aims to describe the efficacy and safety of the exchange transfusion combined with artesunate (ET-AS) regimen in severe P. falciparum malaria. Eight patients diagnosed with severe P. falciparum malaria were included. All patients underwent ET using the COBE Spectra system. The aimed for a post-exchange hematocrit of 30%. Half the estimated blood volume was removed and replaced using fresh frozen plasma. The regimen was well-tolerated without complications. The parasite clearance time ranged from 1 ~ 5 days. Five patients with cerebral malaria exhibited full improved consciousness within 3 days, while patient2 with hemolysis improved on day 2. Liver function improved within 1 ~ 6 days, and patient 1 and patient 6 showed improvements renal function on days 18 and 19, respectively. The length of intensive care unit stay range from 2 ~ 10 days, and all patients treated with ET-AS remained in the hospital for 3 ~ 19 days.
CONCLUSIONS: these preliminary results suggest that ET-AS regimens are a safe and effective therapy for severe P. falciparum malaria and can benefit patients in clinical settings.

Advances in the treatment of spinal muscular atrophy (SMA) have revolutionized the field. SMA is a rare autosomal recessive neurodegenerative motor neuron disease in which wide phenotypic variability has been described. The rate of increase in neurological deficit and the severity of the disease is mainly determined by the amount of functional SMN (Survival of Motor Neuron) protein. However, the clinical picture may differ significantly in patients carrying homozygous deletions of the SMN1 gene (Survival of Motor Neuron 1) and an identical number of copies of the SMN2 gene (Survival of Motor Neuron 2). A family clinical case of adult patients with spinal muscular atrophy 5q with a homozygous deletion of the SMN1 gene and the same number of copies of the SMN2 gene, having a different clinical picture of the disease, is presented, and the dynamics of the condition against the background of oral pathogenetic therapy is presented.
В настоящее время достигнуты прорывные успехи в терапии спинальной мышечной атрофии (СМА). СМА — редкое аутосомно-рецессивное нейродегенеративное заболевание двигательных нейронов, описана его широкая фенотипическая вариабельность. Скорость нарастания неврологического дефицита и тяжесть заболевания в основном определяются количеством функционального белка SMN (англ.: Survival of Motor Neuron). Вместе с тем клиническая картина может значимо отличаться у пациентов, несущих гомозиготные делеции гена SMN1 и идентичное количество копий гена SMN2. Представлен семейный клинический случай взрослых пациентов со СМА 5q с гомозиготной делецией гена SMN1 и одинаковым количеством копий гена SMN2, имеющих различную клиническую картину заболевания, описана динамика состояния на фоне пероральной патогенетической терапии.