BACKGROUND Mycobacterium tuberculosis(TB)is the causative agent of TB,a chronic granulo-matous illness.This disease is prevalent in low-income countries,posing a significant global health challenge.Gastrointestinal TB...BACKGROUND Mycobacterium tuberculosis(TB)is the causative agent of TB,a chronic granulo-matous illness.This disease is prevalent in low-income countries,posing a significant global health challenge.Gastrointestinal TB is one of the three forms.The disease can mimic other intra-abdominal conditions,leading to delayed diagnosis owing to the absence of specific symptoms.While gastric outlet obs-truction(GOO)remains a frequent complication,its incidence has declined with the advent of proton pump inhibitors and Helicobacter pylori eradication therapy.Gastroduodenal TB can cause upper gastrointestinal hemorrhage,obstruction,and malignancy-like tumors.CASE SUMMARY A 23-year-old male presented with recurrent epigastric pain,distension,nausea,vomiting,and weight loss,prompting a referral to a gastroenterologist clinic.Endoscopic examination revealed distorted gastric mucosa and signs of chronic inflammation.However,treatment was interrupted,possibly owing to vomiting or comorbidities such as human immunodeficiency virus infection or diabetes.Subsequent surgical intervention revealed a dilated stomach and diffuse thickening of the duodenal wall.Resection revealed gastric wall effacement with TB.CONCLUSION Primary gastric TB is rare,frequently leading to GOO.Given its rarity,suspicions should be promptly raised when encountering relevant symptoms,often requiring surgical intervention for diagnosis and treatment.展开更多
BACKGROUND Organizing pneumonia secondary to pulmonary tuberculosis is rare.Moreover,the temporal boundary between pulmonary tuberculosis and secondary organizing pneumonia has not been defined.We report a case of sec...BACKGROUND Organizing pneumonia secondary to pulmonary tuberculosis is rare.Moreover,the temporal boundary between pulmonary tuberculosis and secondary organizing pneumonia has not been defined.We report a case of secondary organizing pneumonia associated with pulmonary tuberculosis occurring after nine months of antituberculosis treatment.CASE SUMMARY A 54 years old man,previously diagnosed with pulmonary tuberculosis and tuberculous pleurisy,underwent nine months of antituberculosis treatment.Follow-up lung computed tomography revealed multiple new subpleural groundglass opacities in both lungs,and a lung biopsy confirmed organizing pneumonia.Treatment continued with anti-tuberculosis agents and hormone therapy,and subsequent dynamic pulmonary computed tomography exams demonstrated improvement in lesion absorption.No disease recurrence was observed after corticosteroid therapy discontinuation.CONCLUSION When treating patients with active pulmonary tuberculosis,if an increase in lesions is observed during anti-tuberculosis treatment,it is necessary to consider the possibility of tuberculosis-related secondary organizing pneumonia,timely lung biopsy is essential for early intervention.展开更多
BACKGROUND Primary nasal tuberculosis(TB)is a rare form of extrapulmonary TB,particularly in patients receiving anti-tumor necrosis factor(TNF)immunotherapy.As a result,its diagnosis remains challenging.CASE SUMMARY A...BACKGROUND Primary nasal tuberculosis(TB)is a rare form of extrapulmonary TB,particularly in patients receiving anti-tumor necrosis factor(TNF)immunotherapy.As a result,its diagnosis remains challenging.CASE SUMMARY A 58-year-old male patient presented to the ear,nose,and throat department with right-sided nasal obstruction and bloody discharge for 1 month.He was diagnosed with psoriatic arthritis and received anti-TNF immunotherapy for 3 years prior to presentation.Biopsy findings revealed chronic granulomatous inammation and a few acid-fast bacilli,suggestive of primary nasal TB.He was referred to our TB management department for treatment with oral anti-TB agents.After 9 months,the nasal lesions had disappeared.No recurrence was noted during follow-up.CONCLUSION The diagnosis of primary nasal TB should be considered in patients receiving TNF antagonists who exhibit thickening and crusting of the nasal septum mucosa or inferior turbinate,particularly when pathological findings suggest granulomatous inflammation.展开更多
BACKGROUND Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome.This study presents a rare association between chromosome 4q abnorm...BACKGROUND Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome.This study presents a rare association between chromosome 4q abnormalities and fallopian tube highgrade serous carcinoma(HGSC)in a young woman.CASE SUMMARY A 35-year-old woman presented with acute dull abdominal pain and a known chromosomal abnormality involving 4q13.3 duplication and 4q23q24 deletion.Upon arrival at the emergency room,her abdomen appeared ovoid and distended with palpable shifting dullness.Ascites were identified through abdominal ultrasound,and computed tomography revealed an omentum cake and an enlarged bilateral adnexa.Blood tests showed elevated CA-125 levels.Paracentesis was conducted,and immunohistochemistry indicated that the cancer cells favored an ovarian origin,making us suspect ovarian cancer.The patient underwent debulking surgery,which led to a diagnosis of stage IIIC HGSC of the fallopian tube.Subsequently,the patient received adjuvant chemotherapy with carboplatin and paclitaxel,resulting in stable current condition.CONCLUSION This study demonstrates a rare correlation between a chromosome 4q abnormality and HGSC.UBE2D3 may affect crucial cancer-related pathways,including P53,BRCA,cyclin D,and tyrosine kinase receptors,thereby possibly contributing to cancer development.In addition,ADH1 and DDIT4 may be potential influencers of both carcinogenic and therapeutic responses.展开更多
BACKGROUND Low grade serous carcinoma of the ovary(LGSOC)is a rare type of epithelial ovarian cancer with a low incidence rate.The origin of ovarian cancer has always been a hot topic in gynecological oncology researc...BACKGROUND Low grade serous carcinoma of the ovary(LGSOC)is a rare type of epithelial ovarian cancer with a low incidence rate.The origin of ovarian cancer has always been a hot topic in gynecological oncology research,and some scholars believe that the origin of ovarian malignant tumors is the fallopian tubes.Primary fallopian tube cancer is the lowest incidence of malignant tumors in the female reproductive system.There are only a few reports in the literature,but the mortality rate is very high.But in clinical practice,fallopian tube cancer is very common,but in most cases,it is classified as ovarian cancer.CASE SUMMARY We report a 54 years old postmenopausal woman who was hospitalized with a lower abdominal mass and underwent surgical treatment.The final pathological confirmation was low-grade serous carcinoma of the right ovary and low-grade serous carcinoma of the left fallopian tube.No special treatment was performed after the surgery,and the patient was instructed to undergo regular follow-up without any signs of disease progression.CONCLUSION The prognosis of LGSOC is relatively good,over 80%of patients still experience disease recurrence.展开更多
BACKGROUND Since its description in 1790 by Hunter,the nasogastric tube(NGT)is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding.However,the risks associated with its...BACKGROUND Since its description in 1790 by Hunter,the nasogastric tube(NGT)is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding.However,the risks associated with its placement are often underes-timated.Upper airway obstruction with a NGT is an uncommon but potentially life-threatening complication.NGT syndrome is characterized by the presence of an NGT,throat pain and vocal cord(VC)paralysis,usually bilateral.It is poten-tially life–threatening,and early diagnosis is the key to the prevention of fatal upper airway obstruction.However,fewer cases may have been reported than might have occurred,primarily due to the clinicians'unawareness.The lack of specific signs and symptoms and the inability to prove temporal relation with NGT insertion has made diagnosing the syndrome quite challenging.AIM To review and collate the data from the published case reports and case series to understand the possible risk factors,early warning signs and symptoms for timely detection to prevent the manifestation of the complete syndrome with life-threatening airway obstruction.METHODS We conducted a systematic search for this meta-summary from the database of PubMed,EMBASE,Reference Citation Analysis(https://www.referencecitation-analysis.com/)and Google scholar,from all the past studies till August 2023.The search terms included major MESH terms"Nasogastric tube","Intubation,Gastrointestinal","Vocal Cord Paralysis",and“Syndrome”.All the case reports and case series were evaluated,and the data were extracted for patient demographics,clinical symptomatology,diagnostic and therapeutic interventions,clinical course and outcomes.A datasheet for evaluation was further prepared.RESULTS Twenty-seven cases,from five case series and 13 case reports,of NGT syndrome were retrieved from our search.There was male predominance(17,62.96%),and age at presentation ranged from 28 to 86 years.Ten patients had diabetes mellitus(37.04%),and nine were hypertensive(33.33%).Only three(11.11%)patients were reported to be immunocompromised.The median time for developing symptoms after NGT insertion was 14.5 d(interquartile range 6.25-33.75 d).The most commonly reported reason for NGT insertion was acute stroke(10,37.01%)and the most commonly reported symptoms were stridor or wheezing 17(62.96%).In 77.78%of cases,bilateral VC were affected.The only treatment instituted in most patients(77.78%)was removing the NG tube.Most patients(62.96%)required tracheostomy for airway protection.But 8 of the 23 survivors recovered within five weeks and could be decannulated.Three patients were reported to have died.CONCLUSION NGT syndrome is an uncommon clinical complication of a very common clinical procedure.However,an under-reporting is possible because of misdiagnosis or lack of awareness among clinicians.Patients in early stages and with mild symptoms may be missed.Further,high variability in the presentation timing after NGT insertion makes diagnosis challenging.Early diagnosis and prompt removal of NGT may suffice in most patients,but a significant proportion of patients presenting with respiratory compromise may require tracheostomy for airway protection.展开更多
Background: The community tuberculosis care program was started to reduce the impact of TB and increase successful treatment outcomes, thus contributing to meeting WHO targets on TB. According to the Botswana Ministry...Background: The community tuberculosis care program was started to reduce the impact of TB and increase successful treatment outcomes, thus contributing to meeting WHO targets on TB. According to the Botswana Ministry of Health, community tuberculosis care was introduced with the main goal of reducing tuberculosis-related morbidity and mortality among communities through the expansion of direct observed therapy and community involvement to community settings. The community caregivers were to support tuberculosis patients throughout their treatment period until they were cured or had completed their treatment. Settings: Two major cities of Botswana, Francistown and Gaborone, with more than twenty-two health clinics offering tuberculosis care. Objective: To investigate community caregivers’ experiences and identify programmatic strategies to improve active TB case findings under the community TB care (CTBC) program in Botswana during 2016-2021. Methods: We adopted a descriptive qualitative research design, followed by convenience purposive sampling. We obtained consent and interviewed 40 participants who met the inclusion criteria, 16 out of 73 in Gaborone and 24 out of 38 from Francistown. Results: We interviewed 40 caregivers with a mean age of 43.4 years. Accepting the caregiving role was identified as the main experience by more than two thirds of the caregivers. While at least more than two-fifth felt obligated to care for the patient at home due to personal relations. More than half of the respondents found caregiving difficult or frustrating due to some challenges encountered during the caregiving role. Behavioral modifications were suggested under different subthemes as strategies to improve active case finding. [-rId13-]Conclusion: Acceptance was the major experience in CTBC. Intensification of known programmatic strategies was suggested by caregivers to improve tuberculosis active case finding in CTBC.展开更多
BACKGROUND Musculoskeletal nontuberculous Mycobacterium(NTM)infections are rare,partic-ularly post-acupuncture therapy,and present diagnostic challenges due to their infrequency and potential severity.Prompt recogniti...BACKGROUND Musculoskeletal nontuberculous Mycobacterium(NTM)infections are rare,partic-ularly post-acupuncture therapy,and present diagnostic challenges due to their infrequency and potential severity.Prompt recognition and appropriate manage-ment are crucial for optimal outcomes.NTM-infected wounds involving the joints are difficult to treat,and only a few cases have been reported.CASE SUMMARY We present a case of a chronic intractable NTM-infected wound on the elbow joint that completely healed with conservative wound care and antibiotic treatment.An 81-year-old woman presented with a chronic,ulcerative wound on the right elbow joint where she had undergone repeated acupuncture therapy for chronic intolerable pain.Magnetic resonance imaging revealed synovial thickening,effusion,and subcutaneous cystic lesions.An orthopedic surgeon performed open synovectomy and serial debridement.However,1 month postoperatively,the wound had not healed and became chronic.A wound culture revealed NTM(Mycobacterium abscessus),and the patient was referred to the Department of Plastic and Reconstructive Surgery.Instead of surgical intervention,conservative wound care with intravenous antibiotics was provided,considering the wound status and the patient’s poor general condition.Complete wound healing was achieved in 12 months,with no impact on the range of motion of the elbow joint.CONCLUSION With clinical awareness,musculoskeletal NTM infection can be treated with conservative wound care and appropriate antimicrobial agents.展开更多
BACKGROUND Tuberous sclerosis complex(TSC)and primary lymphedema(PLE)are both rare diseases,and it is even rarer for both to occur in the same patient.In this work,we have provided a detailed description of a patient&...BACKGROUND Tuberous sclerosis complex(TSC)and primary lymphedema(PLE)are both rare diseases,and it is even rarer for both to occur in the same patient.In this work,we have provided a detailed description of a patient's clinical presentation,imaging findings,and treatment.And a retrospective analysis was conducted on 14 published relevant case reports.CASE SUMMARY A 16-year-old male came to our hospital for treatment due to right lower limb swelling.This swelling is already present from birth.The patient’s memory had been progressively declining.Seizures had occurred 1 year prior at an unknown frequency.The patient was diagnosed with TSC combined with PLE through multimodal imaging examination:Computed tomography,magnetic resonance imaging,and lymphoscintigraphy.The patient underwent liposuction.The swelling of the patient's right lower limb significantly improved after surgery.Epilepsy did not occur.after taking antiepileptic drugs and sirolimus.CONCLUSION TSC with PLE is a rare and systemic disease.Imaging can detect lesions of this disease,which are important for diagnosis and treatment.展开更多
BACKGROUND Addison’s disease(AD)is a rare but potentially fatal disease in Western countries,which can easily be misdiagnosed at an early stage.Severe adrenal tuberculosis(TB)may lead to depression in patients.CASE S...BACKGROUND Addison’s disease(AD)is a rare but potentially fatal disease in Western countries,which can easily be misdiagnosed at an early stage.Severe adrenal tuberculosis(TB)may lead to depression in patients.CASE SUMMARY We report a case of primary adrenal insufficiency secondary to adrenal TB with TB in the lungs and skin in a 48-year-old woman.The patient was misdiagnosed with depression because of her depressed mood.She had hyperpigmentation of the skin,nails,mouth,and lips.The final diagnosis was adrenal TB that resulted in the insufficient secretion of adrenocortical hormone.Adrenocortical hormone test,skin biopsy,T cell spot test of TB,and adrenal computed tomography scan were used to confirm the diagnosis.The patient’s condition improved after hormone replacement therapy and TB treatment.CONCLUSION Given the current status of TB in high-burden countries,outpatient doctors should be aware of and pay attention to TB and understand the early symptoms of AD.展开更多
BACKGROUND Tuberculous peritonitis(TBP)is a chronic,diffuse inflammation of the peritoneum caused by Mycobacterium tuberculosis.The route of infection can be by direct spread of intraperitoneal tuberculosis(TB)or by h...BACKGROUND Tuberculous peritonitis(TBP)is a chronic,diffuse inflammation of the peritoneum caused by Mycobacterium tuberculosis.The route of infection can be by direct spread of intraperitoneal tuberculosis(TB)or by hematogenous dissemination.The former is more common,such as intestinal TB,mesenteric lymphatic TB,fa-llopian tube TB,etc.,and can be the direct primary lesion of the disease.CASE SUMMARY We present an older male patient with TBP complicated by an abdominal mass.The patient's preoperative symptoms,signs and imaging data suggested a poss-ible abdominal tumor.After surgical treatment,the patient's primary diagnosis of TBP complicating an intraperitoneal tuberculous abscess was established by com-bining past medical history,postoperative pathology,and positive results of TB-related laboratory tests.The patient's symptoms were significantly reduced after surgical treatment,and he was discharged from the hospital with instructions to continue treatment at a TB specialist hospital and to undergo anti-TB treatment if necessary.CONCLUSION This case report analyses the management of TBP complicated by intraperitoneal tuberculous abscess and highlights the importance of early definitive diagnosis in the hope of improving the clinical management of this type of disease.展开更多
BACKGROUND Intestinal tuberculosis is a chronic disease caused by Mycobacterium tuberculosis that mainly affects the ileum and cecum.Small bowel tuberculosis,characterized by predominant involvement of the small intes...BACKGROUND Intestinal tuberculosis is a chronic disease caused by Mycobacterium tuberculosis that mainly affects the ileum and cecum.Small bowel tuberculosis,characterized by predominant involvement of the small intestine,is an extremely rare condition with highly atypical clinical presentations,making diagnosis even more challenging.CASE SUMMARY We report three cases of small intestinal tuberculosis,two of the patients pre-sented primarily with abdominal pain,and one presented with gastrointestinal bleeding.All patients underwent blood tests and imaging examinations.Small bowel endoscopy(SBE)revealed that the main lesions in these patients were in-testinal stenosis or gastrointestinal bleeding caused by small intestinal ulcers.One patient ultimately underwent surgical treatment.Following a complex diagnostic process and comprehensive analysis,all patients were confirmed to have small intestinal tuberculosis and received standard antituberculosis treatment,leading to an improvement in their condition.CONCLUSION Patients with SBTs present with nonspecific symptoms such as abdominal pain,weight loss,and occasional gastrointestinal bleeding.Accurate diagnosis requires a thorough evaluation of clinical symptoms and various tests to avoid misdiagno-sis and complications.展开更多
BACKGROUND Pulmonary tuberculosis(PTB)is prevalent in immunocompromised populations,including patients with hematologic malignancies,human immunodeficiency virus infections,and chronic diseases.Effective treatment for...BACKGROUND Pulmonary tuberculosis(PTB)is prevalent in immunocompromised populations,including patients with hematologic malignancies,human immunodeficiency virus infections,and chronic diseases.Effective treatment for acute promyelocytic leukemia(APL)combined with PTB is lacking.These patients show an extremely poor prognosis.Therefore,studies should establish efficient treatment options to improve patient survival and prognosis.CASE SUMMARY A 60-year-old male with pain in the right side of his chest and a fever for 4 d visited the outpatient department of our hospital.Peripheral blood smear revealed 54%blasts.Following bone marrow examinations,variant APL with TNRC18-RARA fusion gene was diagnosed.Chest computed tomography scan showed bilateral pneumonitis with bilateral pleural effusions,partial atelectasis in the lower lobes of both lungs,and the bronchoalveolar lavage fluid gene X-Pert test was positive,indicative of PTB.Carrimycin,ethambutol(EMB),and isoniazid(INH)were administered since he could not receive chemotherapy as the WBC count decreased continuously.After one week of treatment with carrimycin,the patient recovered from fever and received chemotherapy.Chemotherapy was very effective and his white blood cells counts got back to normal.After being given five months with rifampin,EMB and INH and chemotherapy,the patient showed complete remission from pneumonia and APL.CONCLUSION We report a case of PTB treated successfully with carrimycin with APL that requires chemotherapy.展开更多
BACKGROUND Avulsion fracture of the ischial tuberosity is a relatively clinically rare type of trauma that is mainly incurred by adolescents during competitive sports activities.According to previous literature,the mo...BACKGROUND Avulsion fracture of the ischial tuberosity is a relatively clinically rare type of trauma that is mainly incurred by adolescents during competitive sports activities.According to previous literature,the most commonly involved sports are soccer,sprinting,and gymnastics,in descending order.Dance-induced avulsion fracture of the ischial tuberosity and ischial ramus is extremely clinically rare.CASE SUMMARY A case of a neglected avulsion fracture of the ischial tuberosity and ischial ramus was diagnosed in a young female dancer who complained of pain and restricted movement of her right hip.She stated that she had suffered the injury while performing a split leap during a dance performance 9 mo prior.Eventually,she underwent surgery and obtained satisfactory treatment results.CONCLUSION Early diagnosis of these fractures is important to ensuring early proper treatment towards a quicker recovery.For old fractures with nonunion and chronic buttock pain,surgery is a preferred therapeutic choice with good treatment outcomes.展开更多
BACKGROUND Tuberculosis is a chronic infectious disease and an important public health pro-blem.Despite progress in controlling tuberculosis,the incidence of tuberculosis in China is still very high,with 895000 new ca...BACKGROUND Tuberculosis is a chronic infectious disease and an important public health pro-blem.Despite progress in controlling tuberculosis,the incidence of tuberculosis in China is still very high,with 895000 new cases annually.This case report des-cribes the investigation of a case of severe disseminated tuberculosis in a young adult with normal immune function,conducted to ascertain why a Mycobacterium tuberculosis(M.tuberculosis)strain caused such severe disease.CASE SUMMARY A previously healthy 28-year-old woman presented to our hospital with a 1-mo-nth history of fever and fatigue.She was diagnosed with severe disseminated pulmonary tuberculosis,spinal tuberculosis with paravertebral abscesses,and tuberculous meningitis.M.tuberculosis was isolated from bronchoal-veolar lavage fluid.She was treated with standard antituberculous therapy and underwent debridement,bone graft,and internal fixation surgery for spinal tuberculosis.She responded to therapy and regained her ability to walk following the surgery.We analysed the whole-genome sequence of the strain and designated it BLM-A21.Additional M.tuberculosis genomes were selected from the Virulence Factor Database(http://www.mgc.ac.cn/cgi-bin/VFs/genus.cgi?Genus=Mycobacterium)for comparison.An evolutionary tree of the BLM-A21 strain was built using PhyML maximum likelihood software.Further gene analysis revealed that,except for the pks1 gene,BLM-A21 had similar virulence genes to the CDC 1551 and H37Rv strains,which have lower dissemination.CONCLUSION We speculate that the pks1 virulence gene in BLM-A21 may be the key virulence gene responsible for the wide-spread dissemination of M.tuberculosis infection in this previously healthy adult with normal immune function.展开更多
BACKGROUND Orificial tuberculosis is a rare type of tuberculosis,which is easy to be misdiagnosed,and can cause great damage to the perianal skin and mucosa.Early diagnosis can avoid further erosion of the perianal mu...BACKGROUND Orificial tuberculosis is a rare type of tuberculosis,which is easy to be misdiagnosed,and can cause great damage to the perianal skin and mucosa.Early diagnosis can avoid further erosion of the perianal muscle tissue by tuberculosis bacteria.CASE SUMMARY Here,we report a case of disseminated tuberculosis in a 62-year-old male patient with a perianal tuberculous ulcer and active pulmonary tuberculosis,intestinal tuberculosis and orificial tuberculosis.This is an extremely rare case of cutaneous tuberculosis of the anus,which was misdiagnosed for nearly a year.The patient received conventional treatment in other medical institutions,but specific treatment was delayed.Ultimately,proper diagnosis and treatment with standard anti-tuberculosis drugs for one year led to complete cure.CONCLUSION For skin ulcers that do not heal with repeated conventional treatments,consider ulcers caused by rare bacteria,such as Mycobacterium tuberculosis.展开更多
BACKGROUND Ependymoma with lipomatous differentiation is a rare type of ependymoma.The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of centr...BACKGROUND Ependymoma with lipomatous differentiation is a rare type of ependymoma.The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of central nervous system tumors.ZFTA fusion-positive lipomatous ependymoma has not been reported to date.CASE SUMMARY We reported a case of a 15-year-old Chinese male who had a sudden convulsion lasting approximately six minutes.Magnetic resonance imaging showed a round cystic shadow of approximately 1.9 cm×1.5 cm×1.9 cm under the right parieto-occipital cortex.Microscopic examination showed characteristic perivascular pseudorosettes and adipose differentiation in the cytoplasm.Immunohisto-chemical staining showed that the tumor cells were negative for cytokeratin,NeuN,Syn and p53,but positive for GFAP,vimentin and S-100 protein.Signi-ficant punctate intracytoplasmic EMA immunoreactivity was observed.The level of Ki-67 was about 5%.Genetic analysis revealed ZFTA:RELA fusion.A cranio-tomy with total excision of the tumor was performed.The follow-up time was 36 months,no evidence of disease recurrence was found in magnetic resonance imaging.CONCLUSION Based on these findings,the patient was diagnosed as a ependymoma with ZFTA fusion and lipomatous differentiation.This case report provides information on the microscopic morphological features of ependymoma with ZFTA fusion and lipomatous differentiation,which can help pathologists to make a definitive diagnosis of this tumor.展开更多
BACKGROUND Wilson's disease(WD)is a rare metabolic disorder of copper accumulation in organs such as liver,brain,and cornea.Diagnoses and treatments are challenging in settings,where advanced diagnostic tests are ...BACKGROUND Wilson's disease(WD)is a rare metabolic disorder of copper accumulation in organs such as liver,brain,and cornea.Diagnoses and treatments are challenging in settings,where advanced diagnostic tests are unavailable,copper chelating agents are frequently scarce,healthcare professionals lack disease awareness,and medical follow-ups are limited.Prompt diagnoses and treatments help prevent complications,improve patients’quality of life,and ensure a normal life expectancy.The clinical presentations and outcomes of WD can vary within a single family.CASE SUMMARY We present the cases of two siblings(19 and 27 years)from a consanguineous family in rural Ecuador,diagnosed as having WD during a family screening.The male patient,diagnosed at age 19 after his brother’s death from acute liver failure,presented with compensated cirrhosis,neurological symptoms,and bilateral Kayser-Fleischer rings.He developed progressive neurological deterioration during an irregular treatment with D-penicillamine due to medication shortages.His condition improved upon switching to trientine tetrahydrochloride,and his neurological symptoms improved over an 8-year period of follow-ups.The female patient,diagnosed at age 10,exhibited only biochemical alterations.Her treatment history was similar;however,she remained asymptomatic without disease progression over the same follow-up period.We discuss the potential influence of epigenetic mechanisms and modifier genes on the various phenotypes,emphasizing the need for research in these areas to optimize therapeutic strategies.CONCLUSION Our patients’medical histories show how early diagnosis and treatment can prevent disease progression;and,how suboptimal treatments impact disease outcomes.展开更多
BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated w...BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated with autoimmune diseases,cancers, medication use, pregnancy, and the post-partum period. Bullous pemphigoid(BP) is a chronic autoimmune subepidermal blistering disease associatedwith tissue-bound and circulating autoantibodies against BP antigens 180 (BP180)and 230 (BP230). AHA-associated BP has a high mortality rate;hence, the understandingof this disease must improve.CASE SUMMARY A 69-year-old man presented with erythema, blisters, blood blisters, and crustsaccompanied by severe pruritus for more than 20 days, and ecchymosis andswelling on his left upper arm for 3 days. Pathological examination revealed asubepidermal blister that contained eosinophils. Laboratory tests showed that theBP180 autoantibody levels had increased, isolated activated partial thromboplastintime was notably prolonged (115.6 s), and coagulation FⅧ activity wasextremely low (< 1.0%). Furthermore, the FⅧ inhibitor titer had greatlyincreased (59.2 Bethesda units). Therefore, the patient was diagnosed as having BP associated with AHA, prescribed 0.05% topical halometasone cream, and transferred to a higher-level hospitalfor effective treatment;however, he died after 2 days.CONCLUSION AHA associated BP is rare, dangerous, and has a high mortality rate. Therefore, its timely diagnosis and effectivetreatment are necessary.展开更多
BACKGROUND Extramedullary plasmacytoma(EMP)represents one of the rarer forms of plasma cell malignancies,capable of impacting a variety of tissues and organs throughout the body.The majority of EMP cases are predomina...BACKGROUND Extramedullary plasmacytoma(EMP)represents one of the rarer forms of plasma cell malignancies,capable of impacting a variety of tissues and organs throughout the body.The majority of EMP cases are predominantly found in the head and neck region,especially within the laryngopharynx,as well as in the gastrointestinal tract.While there have been documented instances of oropharyngeal involvement in EMP cases in the academic literature,it is important to note that EMP specifically affecting the uvula is exceedingly uncommon.Furthermore,it is noteworthy that over 60% of epithelial carcinomas in the upper respiratory tract and oropharynx tend to metastasize to the cervical lymph nodes,indicating a propensity for regional spread in these types of cancers.In this context,we present a rare case of extramedullary plasmacytoma where the uvula served as the initially affected site.This case emphasizes the need for heightened awareness among clinicians regarding such unusual comorbidities,as early recognition and diagnosis can significantly influence patient management and treatment outcomes.In addition,a review of the relevant literature is included to further educate and inform healthcare professionals about this rare presentation,ultimately aiming to enhance clinical understanding and improve patient care in similar situations.CASE SUMMARY A 51-year-old man was admitted to our hospital because of a slowly enlarging neck mass.A physical examination revealed a palpable left lymph node,and magnetic resonance imaging(MRI)of the oropharynx and the neck showed a soft tissue mass in the oropharynx and enlargement of multiple lymph nodes in the neck.The soft tissue mass was diagnosed as plasmacytoma by immunohistochemical analysis.Monoclonal immunoglobulins and bone marrow biopsy showed normal results.Therefore,we diagnosed that as EMP of the uvula.After four cycles of adjuvant chemotherapy dominated by bortezomib,MRI reexamination showed a significant reduction of the mass in the oropharynx and the cervical lymph nodes.Afterwards,the λ light chain returned to normal levels.There was no evidence of evolution to multiple myeloma.CONCLUSION We have reported a rare case of extramedullary plasmacytoma with the uvula as the first affected site and the relevant literature is reviewed to improve clinicians'awareness of such rare comorbidities.展开更多
文摘BACKGROUND Mycobacterium tuberculosis(TB)is the causative agent of TB,a chronic granulo-matous illness.This disease is prevalent in low-income countries,posing a significant global health challenge.Gastrointestinal TB is one of the three forms.The disease can mimic other intra-abdominal conditions,leading to delayed diagnosis owing to the absence of specific symptoms.While gastric outlet obs-truction(GOO)remains a frequent complication,its incidence has declined with the advent of proton pump inhibitors and Helicobacter pylori eradication therapy.Gastroduodenal TB can cause upper gastrointestinal hemorrhage,obstruction,and malignancy-like tumors.CASE SUMMARY A 23-year-old male presented with recurrent epigastric pain,distension,nausea,vomiting,and weight loss,prompting a referral to a gastroenterologist clinic.Endoscopic examination revealed distorted gastric mucosa and signs of chronic inflammation.However,treatment was interrupted,possibly owing to vomiting or comorbidities such as human immunodeficiency virus infection or diabetes.Subsequent surgical intervention revealed a dilated stomach and diffuse thickening of the duodenal wall.Resection revealed gastric wall effacement with TB.CONCLUSION Primary gastric TB is rare,frequently leading to GOO.Given its rarity,suspicions should be promptly raised when encountering relevant symptoms,often requiring surgical intervention for diagnosis and treatment.
基金Supported by The Science and Technology Innovation Program of Changde City.
文摘BACKGROUND Organizing pneumonia secondary to pulmonary tuberculosis is rare.Moreover,the temporal boundary between pulmonary tuberculosis and secondary organizing pneumonia has not been defined.We report a case of secondary organizing pneumonia associated with pulmonary tuberculosis occurring after nine months of antituberculosis treatment.CASE SUMMARY A 54 years old man,previously diagnosed with pulmonary tuberculosis and tuberculous pleurisy,underwent nine months of antituberculosis treatment.Follow-up lung computed tomography revealed multiple new subpleural groundglass opacities in both lungs,and a lung biopsy confirmed organizing pneumonia.Treatment continued with anti-tuberculosis agents and hormone therapy,and subsequent dynamic pulmonary computed tomography exams demonstrated improvement in lesion absorption.No disease recurrence was observed after corticosteroid therapy discontinuation.CONCLUSION When treating patients with active pulmonary tuberculosis,if an increase in lesions is observed during anti-tuberculosis treatment,it is necessary to consider the possibility of tuberculosis-related secondary organizing pneumonia,timely lung biopsy is essential for early intervention.
基金Supported by Department of Health of Zhejiang Province,No.2019-KY1-001-138Zhejiang Provincial Natural Science Foundatio,No.LTGY24H160016。
文摘BACKGROUND Primary nasal tuberculosis(TB)is a rare form of extrapulmonary TB,particularly in patients receiving anti-tumor necrosis factor(TNF)immunotherapy.As a result,its diagnosis remains challenging.CASE SUMMARY A 58-year-old male patient presented to the ear,nose,and throat department with right-sided nasal obstruction and bloody discharge for 1 month.He was diagnosed with psoriatic arthritis and received anti-TNF immunotherapy for 3 years prior to presentation.Biopsy findings revealed chronic granulomatous inammation and a few acid-fast bacilli,suggestive of primary nasal TB.He was referred to our TB management department for treatment with oral anti-TB agents.After 9 months,the nasal lesions had disappeared.No recurrence was noted during follow-up.CONCLUSION The diagnosis of primary nasal TB should be considered in patients receiving TNF antagonists who exhibit thickening and crusting of the nasal septum mucosa or inferior turbinate,particularly when pathological findings suggest granulomatous inflammation.
文摘BACKGROUND Few studies have reported an association between an increased risk of acquiring cancers and survival in patients with 4q deletion syndrome.This study presents a rare association between chromosome 4q abnormalities and fallopian tube highgrade serous carcinoma(HGSC)in a young woman.CASE SUMMARY A 35-year-old woman presented with acute dull abdominal pain and a known chromosomal abnormality involving 4q13.3 duplication and 4q23q24 deletion.Upon arrival at the emergency room,her abdomen appeared ovoid and distended with palpable shifting dullness.Ascites were identified through abdominal ultrasound,and computed tomography revealed an omentum cake and an enlarged bilateral adnexa.Blood tests showed elevated CA-125 levels.Paracentesis was conducted,and immunohistochemistry indicated that the cancer cells favored an ovarian origin,making us suspect ovarian cancer.The patient underwent debulking surgery,which led to a diagnosis of stage IIIC HGSC of the fallopian tube.Subsequently,the patient received adjuvant chemotherapy with carboplatin and paclitaxel,resulting in stable current condition.CONCLUSION This study demonstrates a rare correlation between a chromosome 4q abnormality and HGSC.UBE2D3 may affect crucial cancer-related pathways,including P53,BRCA,cyclin D,and tyrosine kinase receptors,thereby possibly contributing to cancer development.In addition,ADH1 and DDIT4 may be potential influencers of both carcinogenic and therapeutic responses.
文摘BACKGROUND Low grade serous carcinoma of the ovary(LGSOC)is a rare type of epithelial ovarian cancer with a low incidence rate.The origin of ovarian cancer has always been a hot topic in gynecological oncology research,and some scholars believe that the origin of ovarian malignant tumors is the fallopian tubes.Primary fallopian tube cancer is the lowest incidence of malignant tumors in the female reproductive system.There are only a few reports in the literature,but the mortality rate is very high.But in clinical practice,fallopian tube cancer is very common,but in most cases,it is classified as ovarian cancer.CASE SUMMARY We report a 54 years old postmenopausal woman who was hospitalized with a lower abdominal mass and underwent surgical treatment.The final pathological confirmation was low-grade serous carcinoma of the right ovary and low-grade serous carcinoma of the left fallopian tube.No special treatment was performed after the surgery,and the patient was instructed to undergo regular follow-up without any signs of disease progression.CONCLUSION The prognosis of LGSOC is relatively good,over 80%of patients still experience disease recurrence.
文摘BACKGROUND Since its description in 1790 by Hunter,the nasogastric tube(NGT)is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding.However,the risks associated with its placement are often underes-timated.Upper airway obstruction with a NGT is an uncommon but potentially life-threatening complication.NGT syndrome is characterized by the presence of an NGT,throat pain and vocal cord(VC)paralysis,usually bilateral.It is poten-tially life–threatening,and early diagnosis is the key to the prevention of fatal upper airway obstruction.However,fewer cases may have been reported than might have occurred,primarily due to the clinicians'unawareness.The lack of specific signs and symptoms and the inability to prove temporal relation with NGT insertion has made diagnosing the syndrome quite challenging.AIM To review and collate the data from the published case reports and case series to understand the possible risk factors,early warning signs and symptoms for timely detection to prevent the manifestation of the complete syndrome with life-threatening airway obstruction.METHODS We conducted a systematic search for this meta-summary from the database of PubMed,EMBASE,Reference Citation Analysis(https://www.referencecitation-analysis.com/)and Google scholar,from all the past studies till August 2023.The search terms included major MESH terms"Nasogastric tube","Intubation,Gastrointestinal","Vocal Cord Paralysis",and“Syndrome”.All the case reports and case series were evaluated,and the data were extracted for patient demographics,clinical symptomatology,diagnostic and therapeutic interventions,clinical course and outcomes.A datasheet for evaluation was further prepared.RESULTS Twenty-seven cases,from five case series and 13 case reports,of NGT syndrome were retrieved from our search.There was male predominance(17,62.96%),and age at presentation ranged from 28 to 86 years.Ten patients had diabetes mellitus(37.04%),and nine were hypertensive(33.33%).Only three(11.11%)patients were reported to be immunocompromised.The median time for developing symptoms after NGT insertion was 14.5 d(interquartile range 6.25-33.75 d).The most commonly reported reason for NGT insertion was acute stroke(10,37.01%)and the most commonly reported symptoms were stridor or wheezing 17(62.96%).In 77.78%of cases,bilateral VC were affected.The only treatment instituted in most patients(77.78%)was removing the NG tube.Most patients(62.96%)required tracheostomy for airway protection.But 8 of the 23 survivors recovered within five weeks and could be decannulated.Three patients were reported to have died.CONCLUSION NGT syndrome is an uncommon clinical complication of a very common clinical procedure.However,an under-reporting is possible because of misdiagnosis or lack of awareness among clinicians.Patients in early stages and with mild symptoms may be missed.Further,high variability in the presentation timing after NGT insertion makes diagnosis challenging.Early diagnosis and prompt removal of NGT may suffice in most patients,but a significant proportion of patients presenting with respiratory compromise may require tracheostomy for airway protection.
文摘Background: The community tuberculosis care program was started to reduce the impact of TB and increase successful treatment outcomes, thus contributing to meeting WHO targets on TB. According to the Botswana Ministry of Health, community tuberculosis care was introduced with the main goal of reducing tuberculosis-related morbidity and mortality among communities through the expansion of direct observed therapy and community involvement to community settings. The community caregivers were to support tuberculosis patients throughout their treatment period until they were cured or had completed their treatment. Settings: Two major cities of Botswana, Francistown and Gaborone, with more than twenty-two health clinics offering tuberculosis care. Objective: To investigate community caregivers’ experiences and identify programmatic strategies to improve active TB case findings under the community TB care (CTBC) program in Botswana during 2016-2021. Methods: We adopted a descriptive qualitative research design, followed by convenience purposive sampling. We obtained consent and interviewed 40 participants who met the inclusion criteria, 16 out of 73 in Gaborone and 24 out of 38 from Francistown. Results: We interviewed 40 caregivers with a mean age of 43.4 years. Accepting the caregiving role was identified as the main experience by more than two thirds of the caregivers. While at least more than two-fifth felt obligated to care for the patient at home due to personal relations. More than half of the respondents found caregiving difficult or frustrating due to some challenges encountered during the caregiving role. Behavioral modifications were suggested under different subthemes as strategies to improve active case finding. [-rId13-]Conclusion: Acceptance was the major experience in CTBC. Intensification of known programmatic strategies was suggested by caregivers to improve tuberculosis active case finding in CTBC.
文摘BACKGROUND Musculoskeletal nontuberculous Mycobacterium(NTM)infections are rare,partic-ularly post-acupuncture therapy,and present diagnostic challenges due to their infrequency and potential severity.Prompt recognition and appropriate manage-ment are crucial for optimal outcomes.NTM-infected wounds involving the joints are difficult to treat,and only a few cases have been reported.CASE SUMMARY We present a case of a chronic intractable NTM-infected wound on the elbow joint that completely healed with conservative wound care and antibiotic treatment.An 81-year-old woman presented with a chronic,ulcerative wound on the right elbow joint where she had undergone repeated acupuncture therapy for chronic intolerable pain.Magnetic resonance imaging revealed synovial thickening,effusion,and subcutaneous cystic lesions.An orthopedic surgeon performed open synovectomy and serial debridement.However,1 month postoperatively,the wound had not healed and became chronic.A wound culture revealed NTM(Mycobacterium abscessus),and the patient was referred to the Department of Plastic and Reconstructive Surgery.Instead of surgical intervention,conservative wound care with intravenous antibiotics was provided,considering the wound status and the patient’s poor general condition.Complete wound healing was achieved in 12 months,with no impact on the range of motion of the elbow joint.CONCLUSION With clinical awareness,musculoskeletal NTM infection can be treated with conservative wound care and appropriate antimicrobial agents.
基金Supported by National Natural Science Foundation of China,No.61876216.
文摘BACKGROUND Tuberous sclerosis complex(TSC)and primary lymphedema(PLE)are both rare diseases,and it is even rarer for both to occur in the same patient.In this work,we have provided a detailed description of a patient's clinical presentation,imaging findings,and treatment.And a retrospective analysis was conducted on 14 published relevant case reports.CASE SUMMARY A 16-year-old male came to our hospital for treatment due to right lower limb swelling.This swelling is already present from birth.The patient’s memory had been progressively declining.Seizures had occurred 1 year prior at an unknown frequency.The patient was diagnosed with TSC combined with PLE through multimodal imaging examination:Computed tomography,magnetic resonance imaging,and lymphoscintigraphy.The patient underwent liposuction.The swelling of the patient's right lower limb significantly improved after surgery.Epilepsy did not occur.after taking antiepileptic drugs and sirolimus.CONCLUSION TSC with PLE is a rare and systemic disease.Imaging can detect lesions of this disease,which are important for diagnosis and treatment.
文摘BACKGROUND Addison’s disease(AD)is a rare but potentially fatal disease in Western countries,which can easily be misdiagnosed at an early stage.Severe adrenal tuberculosis(TB)may lead to depression in patients.CASE SUMMARY We report a case of primary adrenal insufficiency secondary to adrenal TB with TB in the lungs and skin in a 48-year-old woman.The patient was misdiagnosed with depression because of her depressed mood.She had hyperpigmentation of the skin,nails,mouth,and lips.The final diagnosis was adrenal TB that resulted in the insufficient secretion of adrenocortical hormone.Adrenocortical hormone test,skin biopsy,T cell spot test of TB,and adrenal computed tomography scan were used to confirm the diagnosis.The patient’s condition improved after hormone replacement therapy and TB treatment.CONCLUSION Given the current status of TB in high-burden countries,outpatient doctors should be aware of and pay attention to TB and understand the early symptoms of AD.
文摘BACKGROUND Tuberculous peritonitis(TBP)is a chronic,diffuse inflammation of the peritoneum caused by Mycobacterium tuberculosis.The route of infection can be by direct spread of intraperitoneal tuberculosis(TB)or by hematogenous dissemination.The former is more common,such as intestinal TB,mesenteric lymphatic TB,fa-llopian tube TB,etc.,and can be the direct primary lesion of the disease.CASE SUMMARY We present an older male patient with TBP complicated by an abdominal mass.The patient's preoperative symptoms,signs and imaging data suggested a poss-ible abdominal tumor.After surgical treatment,the patient's primary diagnosis of TBP complicating an intraperitoneal tuberculous abscess was established by com-bining past medical history,postoperative pathology,and positive results of TB-related laboratory tests.The patient's symptoms were significantly reduced after surgical treatment,and he was discharged from the hospital with instructions to continue treatment at a TB specialist hospital and to undergo anti-TB treatment if necessary.CONCLUSION This case report analyses the management of TBP complicated by intraperitoneal tuberculous abscess and highlights the importance of early definitive diagnosis in the hope of improving the clinical management of this type of disease.
文摘BACKGROUND Intestinal tuberculosis is a chronic disease caused by Mycobacterium tuberculosis that mainly affects the ileum and cecum.Small bowel tuberculosis,characterized by predominant involvement of the small intestine,is an extremely rare condition with highly atypical clinical presentations,making diagnosis even more challenging.CASE SUMMARY We report three cases of small intestinal tuberculosis,two of the patients pre-sented primarily with abdominal pain,and one presented with gastrointestinal bleeding.All patients underwent blood tests and imaging examinations.Small bowel endoscopy(SBE)revealed that the main lesions in these patients were in-testinal stenosis or gastrointestinal bleeding caused by small intestinal ulcers.One patient ultimately underwent surgical treatment.Following a complex diagnostic process and comprehensive analysis,all patients were confirmed to have small intestinal tuberculosis and received standard antituberculosis treatment,leading to an improvement in their condition.CONCLUSION Patients with SBTs present with nonspecific symptoms such as abdominal pain,weight loss,and occasional gastrointestinal bleeding.Accurate diagnosis requires a thorough evaluation of clinical symptoms and various tests to avoid misdiagno-sis and complications.
文摘BACKGROUND Pulmonary tuberculosis(PTB)is prevalent in immunocompromised populations,including patients with hematologic malignancies,human immunodeficiency virus infections,and chronic diseases.Effective treatment for acute promyelocytic leukemia(APL)combined with PTB is lacking.These patients show an extremely poor prognosis.Therefore,studies should establish efficient treatment options to improve patient survival and prognosis.CASE SUMMARY A 60-year-old male with pain in the right side of his chest and a fever for 4 d visited the outpatient department of our hospital.Peripheral blood smear revealed 54%blasts.Following bone marrow examinations,variant APL with TNRC18-RARA fusion gene was diagnosed.Chest computed tomography scan showed bilateral pneumonitis with bilateral pleural effusions,partial atelectasis in the lower lobes of both lungs,and the bronchoalveolar lavage fluid gene X-Pert test was positive,indicative of PTB.Carrimycin,ethambutol(EMB),and isoniazid(INH)were administered since he could not receive chemotherapy as the WBC count decreased continuously.After one week of treatment with carrimycin,the patient recovered from fever and received chemotherapy.Chemotherapy was very effective and his white blood cells counts got back to normal.After being given five months with rifampin,EMB and INH and chemotherapy,the patient showed complete remission from pneumonia and APL.CONCLUSION We report a case of PTB treated successfully with carrimycin with APL that requires chemotherapy.
文摘BACKGROUND Avulsion fracture of the ischial tuberosity is a relatively clinically rare type of trauma that is mainly incurred by adolescents during competitive sports activities.According to previous literature,the most commonly involved sports are soccer,sprinting,and gymnastics,in descending order.Dance-induced avulsion fracture of the ischial tuberosity and ischial ramus is extremely clinically rare.CASE SUMMARY A case of a neglected avulsion fracture of the ischial tuberosity and ischial ramus was diagnosed in a young female dancer who complained of pain and restricted movement of her right hip.She stated that she had suffered the injury while performing a split leap during a dance performance 9 mo prior.Eventually,she underwent surgery and obtained satisfactory treatment results.CONCLUSION Early diagnosis of these fractures is important to ensuring early proper treatment towards a quicker recovery.For old fractures with nonunion and chronic buttock pain,surgery is a preferred therapeutic choice with good treatment outcomes.
基金Supported by the Research on Intelligent Recommendation Decision Model of Geriatrics Based on Big Data,No.2021CX01010136.
文摘BACKGROUND Tuberculosis is a chronic infectious disease and an important public health pro-blem.Despite progress in controlling tuberculosis,the incidence of tuberculosis in China is still very high,with 895000 new cases annually.This case report des-cribes the investigation of a case of severe disseminated tuberculosis in a young adult with normal immune function,conducted to ascertain why a Mycobacterium tuberculosis(M.tuberculosis)strain caused such severe disease.CASE SUMMARY A previously healthy 28-year-old woman presented to our hospital with a 1-mo-nth history of fever and fatigue.She was diagnosed with severe disseminated pulmonary tuberculosis,spinal tuberculosis with paravertebral abscesses,and tuberculous meningitis.M.tuberculosis was isolated from bronchoal-veolar lavage fluid.She was treated with standard antituberculous therapy and underwent debridement,bone graft,and internal fixation surgery for spinal tuberculosis.She responded to therapy and regained her ability to walk following the surgery.We analysed the whole-genome sequence of the strain and designated it BLM-A21.Additional M.tuberculosis genomes were selected from the Virulence Factor Database(http://www.mgc.ac.cn/cgi-bin/VFs/genus.cgi?Genus=Mycobacterium)for comparison.An evolutionary tree of the BLM-A21 strain was built using PhyML maximum likelihood software.Further gene analysis revealed that,except for the pks1 gene,BLM-A21 had similar virulence genes to the CDC 1551 and H37Rv strains,which have lower dissemination.CONCLUSION We speculate that the pks1 virulence gene in BLM-A21 may be the key virulence gene responsible for the wide-spread dissemination of M.tuberculosis infection in this previously healthy adult with normal immune function.
文摘BACKGROUND Orificial tuberculosis is a rare type of tuberculosis,which is easy to be misdiagnosed,and can cause great damage to the perianal skin and mucosa.Early diagnosis can avoid further erosion of the perianal muscle tissue by tuberculosis bacteria.CASE SUMMARY Here,we report a case of disseminated tuberculosis in a 62-year-old male patient with a perianal tuberculous ulcer and active pulmonary tuberculosis,intestinal tuberculosis and orificial tuberculosis.This is an extremely rare case of cutaneous tuberculosis of the anus,which was misdiagnosed for nearly a year.The patient received conventional treatment in other medical institutions,but specific treatment was delayed.Ultimately,proper diagnosis and treatment with standard anti-tuberculosis drugs for one year led to complete cure.CONCLUSION For skin ulcers that do not heal with repeated conventional treatments,consider ulcers caused by rare bacteria,such as Mycobacterium tuberculosis.
文摘BACKGROUND Ependymoma with lipomatous differentiation is a rare type of ependymoma.The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of central nervous system tumors.ZFTA fusion-positive lipomatous ependymoma has not been reported to date.CASE SUMMARY We reported a case of a 15-year-old Chinese male who had a sudden convulsion lasting approximately six minutes.Magnetic resonance imaging showed a round cystic shadow of approximately 1.9 cm×1.5 cm×1.9 cm under the right parieto-occipital cortex.Microscopic examination showed characteristic perivascular pseudorosettes and adipose differentiation in the cytoplasm.Immunohisto-chemical staining showed that the tumor cells were negative for cytokeratin,NeuN,Syn and p53,but positive for GFAP,vimentin and S-100 protein.Signi-ficant punctate intracytoplasmic EMA immunoreactivity was observed.The level of Ki-67 was about 5%.Genetic analysis revealed ZFTA:RELA fusion.A cranio-tomy with total excision of the tumor was performed.The follow-up time was 36 months,no evidence of disease recurrence was found in magnetic resonance imaging.CONCLUSION Based on these findings,the patient was diagnosed as a ependymoma with ZFTA fusion and lipomatous differentiation.This case report provides information on the microscopic morphological features of ependymoma with ZFTA fusion and lipomatous differentiation,which can help pathologists to make a definitive diagnosis of this tumor.
文摘BACKGROUND Wilson's disease(WD)is a rare metabolic disorder of copper accumulation in organs such as liver,brain,and cornea.Diagnoses and treatments are challenging in settings,where advanced diagnostic tests are unavailable,copper chelating agents are frequently scarce,healthcare professionals lack disease awareness,and medical follow-ups are limited.Prompt diagnoses and treatments help prevent complications,improve patients’quality of life,and ensure a normal life expectancy.The clinical presentations and outcomes of WD can vary within a single family.CASE SUMMARY We present the cases of two siblings(19 and 27 years)from a consanguineous family in rural Ecuador,diagnosed as having WD during a family screening.The male patient,diagnosed at age 19 after his brother’s death from acute liver failure,presented with compensated cirrhosis,neurological symptoms,and bilateral Kayser-Fleischer rings.He developed progressive neurological deterioration during an irregular treatment with D-penicillamine due to medication shortages.His condition improved upon switching to trientine tetrahydrochloride,and his neurological symptoms improved over an 8-year period of follow-ups.The female patient,diagnosed at age 10,exhibited only biochemical alterations.Her treatment history was similar;however,she remained asymptomatic without disease progression over the same follow-up period.We discuss the potential influence of epigenetic mechanisms and modifier genes on the various phenotypes,emphasizing the need for research in these areas to optimize therapeutic strategies.CONCLUSION Our patients’medical histories show how early diagnosis and treatment can prevent disease progression;and,how suboptimal treatments impact disease outcomes.
基金Supported by Traditional Chinese Medicine Research Program of Hebei Provincial Administration of Traditional Chinese Medicine,No.2025313 and No.2025448.
文摘BACKGROUND Acquired hemophilia A (AHA) is a rare and potentially severe bleeding disordercaused by circulating autoantibodies against factor Ⅷ (FⅧ). In approximately50% of the patients, the condition is associated with autoimmune diseases,cancers, medication use, pregnancy, and the post-partum period. Bullous pemphigoid(BP) is a chronic autoimmune subepidermal blistering disease associatedwith tissue-bound and circulating autoantibodies against BP antigens 180 (BP180)and 230 (BP230). AHA-associated BP has a high mortality rate;hence, the understandingof this disease must improve.CASE SUMMARY A 69-year-old man presented with erythema, blisters, blood blisters, and crustsaccompanied by severe pruritus for more than 20 days, and ecchymosis andswelling on his left upper arm for 3 days. Pathological examination revealed asubepidermal blister that contained eosinophils. Laboratory tests showed that theBP180 autoantibody levels had increased, isolated activated partial thromboplastintime was notably prolonged (115.6 s), and coagulation FⅧ activity wasextremely low (< 1.0%). Furthermore, the FⅧ inhibitor titer had greatlyincreased (59.2 Bethesda units). Therefore, the patient was diagnosed as having BP associated with AHA, prescribed 0.05% topical halometasone cream, and transferred to a higher-level hospitalfor effective treatment;however, he died after 2 days.CONCLUSION AHA associated BP is rare, dangerous, and has a high mortality rate. Therefore, its timely diagnosis and effectivetreatment are necessary.
基金Supported by Hunan Innovative Province Construction Special Task Book,No.2021SK4050Innovation Platform and Talent Program of Hunan Province,No.2023JJ30609.
文摘BACKGROUND Extramedullary plasmacytoma(EMP)represents one of the rarer forms of plasma cell malignancies,capable of impacting a variety of tissues and organs throughout the body.The majority of EMP cases are predominantly found in the head and neck region,especially within the laryngopharynx,as well as in the gastrointestinal tract.While there have been documented instances of oropharyngeal involvement in EMP cases in the academic literature,it is important to note that EMP specifically affecting the uvula is exceedingly uncommon.Furthermore,it is noteworthy that over 60% of epithelial carcinomas in the upper respiratory tract and oropharynx tend to metastasize to the cervical lymph nodes,indicating a propensity for regional spread in these types of cancers.In this context,we present a rare case of extramedullary plasmacytoma where the uvula served as the initially affected site.This case emphasizes the need for heightened awareness among clinicians regarding such unusual comorbidities,as early recognition and diagnosis can significantly influence patient management and treatment outcomes.In addition,a review of the relevant literature is included to further educate and inform healthcare professionals about this rare presentation,ultimately aiming to enhance clinical understanding and improve patient care in similar situations.CASE SUMMARY A 51-year-old man was admitted to our hospital because of a slowly enlarging neck mass.A physical examination revealed a palpable left lymph node,and magnetic resonance imaging(MRI)of the oropharynx and the neck showed a soft tissue mass in the oropharynx and enlargement of multiple lymph nodes in the neck.The soft tissue mass was diagnosed as plasmacytoma by immunohistochemical analysis.Monoclonal immunoglobulins and bone marrow biopsy showed normal results.Therefore,we diagnosed that as EMP of the uvula.After four cycles of adjuvant chemotherapy dominated by bortezomib,MRI reexamination showed a significant reduction of the mass in the oropharynx and the cervical lymph nodes.Afterwards,the λ light chain returned to normal levels.There was no evidence of evolution to multiple myeloma.CONCLUSION We have reported a rare case of extramedullary plasmacytoma with the uvula as the first affected site and the relevant literature is reviewed to improve clinicians'awareness of such rare comorbidities.