bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case report: Infection-related glomerulonephritis and mantle cell lymphoma due to mycobacterium avium complex infection
Authors: Huang Yiqi , Xia Li , Shen Weigang , Fu Tianxiao 
Published: January 2024

Rationale:
Mycobacterium avium complex (MAC) infection is common in lung, liver and skin. However, MAC presenting with peritonitis is uncommon and is particularly rare in immunocompetent patients. We report a case of infection-associated glomerulonephritis and mantle cell lymphoma caused by peritonitis due to MAC.

Patient concerns:
We report a case of a 73-year-old elderly man with fever and abdominal pain for 2 days and gradually developed anuria, ascites, and abdominal lymphadenopathy.

Diagnoses:
The initial diagnosis was peritonitis and acute renal failure. There was no significant relief of symptoms after empirical anti-infective therapy and hemodialysis. infection-associated glomerulonephritis, mantle cell lymphoma, and peritonitis due to MAC were diagnosed by renal biopsy, abdominal lymph node biopsy, and metagenomics next-generation sequencing.

Interventions:
The patient received empirical antibiotic therapy, hemodialysis, and anti-MAC therapy.

Outcomes:
Unfortunately, the patient eventually died of septic shock after the 21st day of admissiom.

Lessons:
Early diagnosis of MAC infection is essential. When the cause of fever is unknown, metagenomics next-generation sequencing can be considered.
An effective treatment and suspicious adverse reaction to Ibrutinib in a patient diagnosed with splenic B-cell lymphoma/leukaemia with prominent nucleoli: A first case report
Authors: Shen Mei-Xiao , Li Fu-Ling , Luo Xian-Sheng , Wang Zhi-Ming 
Published: January 2024

Rationale:
Splenic B-cell lymphoma/leukemia with prominent nucleoli (SBLPN) is a new classification, which is so rare that it lacks clinical data.

Patient concerns:
An increased proportion of prolymphocytes (84%) in the bone marrow smear. Whole exon sequence analysis revealed a TP53 mutation.

Diagnoses:
Combining the clinical features with laboratory test results led to a diagnosis of SBLPN which was made according to the 5th edition of the WHO classification of hematolymphoid tumors, although the patient was diagnosed with B-PLL when guided by the 4th edition of the WHO classification.

Interventions:
The use of Ibrutinib as an effective treatment.

Outcomes:
The patient was in complete remission after 5 months of Ibrutinib and then died of sudden aortic dissection.

Lessons:
Ibrutinib was an effective regimen for SBLPN. Aortic dissection might be considered as a suspicious adverse reaction to Ibrutinib.
Homonymous hemianopia due to cerebral venous thrombosis: A case report
Authors: Choi Woo Seok , Yoon Sook Hyun , Lee Donghun 
Published: January 2024

Rationale:
Diagnosing cerebral venous thrombosis (CVT) can be difficult because of nonspecific symptoms, such as headache and homonymous hemianopia (HH). Herein, we present a case of delayed CVT diagnosis due to nonspecific neurological symptoms and nonprominent lesions in a patient with HH.

Patient concern:
A 65-year-old woman presented with a sudden onset headache accompanied by right HH that lasted for 1 day. Brain computed tomography and magnetic resonance imaging were initially performed due to suspicion of ischemic lesions or hemorrhage in the left postchiasmal visual pathway; however, no remarkable acute brain lesions were detected. Ophthalmological examinations revealed no notable findings, except for a definite field defect in the Humphrey visual field test. The headaches then waxed and waned but recurred 3 days after the initial symptom.
A repeat brain magnetic resonance imaging was performed, which revealed left sectoral gyral swelling and vascular enhancement in the occipital lobe. To further evaluate venous drainage, additional 3-dimensional cerebral computed tomography angiography and 4-vessel angiography were conducted, revealing a partial filling defect in the left transverse sinus and superior venous drainage impairment. These findings suggested the presence of venous thrombosis in the left transverse sinus.

Diagnosis:
The patient was diagnosed with thrombosis of the left transverse sinus, which subsequently caused the right HH.

Intervention:
Anticoagulation therapy with parenteral heparin was started as soon as the diagnosis of CVT was confirmed. Eventually, the patient was solely managed with oral warfarin administration.

Outcomes:
Following 3 days of treatment, her headache resolved, and a subsequent visual field testing conducted 2 weeks later revealed a definite improvement in the field defect.

Lessons:
Despite its favorable prognosis, CVT can be challenging to diagnose. CVT should be considered as a differential diagnosis when diagnosing patients who present with headaches accompanied by HH without prominent brain lesions.
Effect of functional electrical stimulation-based mirror therapy using gesture recognition biofeedback on upper extremity function in patients with chronic stroke: A randomized controlled trial
Authors: Kim Young-Soung , Song Jun-Young , Park Sam-Ho , Lee Myung-Mo 
Published: January 2024

Background:
Mirror therapy (MT) is an intervention used for upper extremity rehabilitation in stroke patients and has been studied in various fields. Recently, effective MT methods have been introduced in combination with neuromuscular electrical stimulation or with electromyography (EMG)-triggered biofeedback. The purpose of this study was to investigate the effects of functional electrical stimulation (FES)-based MT incorporating a motion recognition biofeedback device on upper extremity motor recovery to chronic stroke patients.

Methods:
Twenty-six chronic stroke patients with onset of more than 6 months were randomly assigned into experimental group (n = 13) and control group (n = 13). Both groups participated in conventional rehabilitation program, while the control group received conventional MT intervention and the experimental group received FES-based MT with motion recognition biofeedback device. All interventions were conducted for 30 min/d, 5 d/wk, for 4 weeks. Upper limb motor recovery, upper limb function, active-range of motion (ROM), and activities of daily living independence were measured before and after the intervention and compared between the 2 groups.

Results:
The Fugl-Meyer assessment (FMA), manual function test (MFT), K-MBI, and active-ROM (excluding deviation) were significantly improved in both groups (P < .05). Only the experimental group showed significant improvement in upper extremity recovery, ulnar and radial deviation (P < .05). There was a significant difference of change in Brunstrom’s recovery level, FMA, MFT, and active-ROM in the experimental group compared to the control group (P < .05).

Conclusion:
FES-based MT using gesture recognition biofeedback is an effective intervention method for improving upper extremity motor recovery and function, active-ROM in patients with chronic stroke. This study suggests that incorporating gesture-recognition biofeedback into FES-based MT can provide additional benefits to patients with chronic stroke.
A newborn with convulsions 12 days after birth was misdiagnosed as neonatal intracranial hemorrhage: Case report
Authors: Che Yuanyuan , Zhong Jianmin , Chen Yong , Xie Jihua , Wang Ruiyan , Xu Yuxin , Zha Jian , Zeng Miao , Chen Hui 
Published: January 2024

Introduction:
Cases with early diagnosis of neonatal tuberous sclerosis syndrome (TSC) are relatively seldom seen, and misdiagnosis of intracranial hemorrhage is even more rare. We retrospectively analyzed the clinical data of a case of neonatal tuberous sclerosis with atypical early symptoms and misdiagnosed as more common intracranial hemorrhage of the newborn.

Patient concerns:
The child was female and had no obvious cause of convulsion 12 days after birth. The local hospital was initially diagnosed as “neonatal intracranial hemorrhage, congenital heart disease,” and still had convulsions after 5 days of treatment, so it was transferred to neonatal intensive care unit of our hospital.

Diagnosis:
After admission, cardiac color ultrasound, magnetic resonance imaging, and electroencephalogram were performed, and TSC was diagnosed in combination with clinical symptoms. However, no known pathogenic mutations such as TSC1 and TSC2 were detected by peripheral blood whole exon sequencing.

Intervention:
After a clear diagnosis, sirolimus, and vigabatrin were given. But there were still convulsions. Topiramate, valproic acid, and oxcarbazepine were successively added to the outpatient department for antiepileptic treatment, and vigabatrin gradually decreased.

Outcome:
Up to now, although the seizures have decreased, they have not been completely controlled.

Conclusions:
The TSC of neonatal tuberous sclerosis is different from that of older children. It is usually characterized by respiratory distress and arrhythmia, and may be accompanied by convulsions, but the activity between attacks is normal. However, neonatal intracranial hemorrhage can be caused by premature delivery, birth injury, hypoxia, etc. Its characteristics are acute onset, severe illness, and rapid progression. Consequently, the diagnosis of these 2 diseases should not only be based on medical imaging, but also be combined with their clinical characteristics. When the imaging features are inconsistent with the clinical diagnosis, a comprehensive evaluation should be made again. The timing and pattern of onset of neonatal convulsions can help in differential diagnosis. If there is cardiac rhabdomyoma, subependymal or cortical nodule, skin low melanoma, etc, the possibility of neonatal TSC should be considered, and the diagnosis should be made according to its diagnostic criteria to avoid or reduce misdiagnosis.
NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review
Authors: Wei Xianzhen , Li Shan , He Yu 
Published: January 2024

Rationale:
Disorders/differences of sex development (DSD) include a diverse group of congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is discordant. It involves several variant genes, and one of them is NR5A1. NR5A1 encodes a signal transduction regulator in the hypothalamic-pituitary-gonadal and hypothalamic-pituitary-adrenal pathway, and pathogenic mutation in this gene is a cause of 46,XY DSD.

Patient concerns:
A 12-year-old individual raised as a girl was admitted to the hospital due to hirsutism and a deep voice that began at 11 years old. The individual exhibited testicular hypoplasia, clitoral hypertrophy, and female external genitalia.

Diagnoses:
The patient was diagnosed 46,XY partial gonadal dysgenesis. The cytogenetics revealed a 46,XY karyotype and DNA sequencing shown a variant in NR5A1. Pelvic magnetic resonance imaging showed absence of uterus and ovaries. The abdominopelvic ultrasound revealed bilateral testicle in bilateral groin. Pathology confirmed testes dysgenesis.

Interventions:
The patient underwent bilateral orchiectomy at age 12 years and was given a feminizing hormonal treatment of 0.5 mg/day of estradiol valerate tablets.

Outcomes:
The patient recovered well after surgery and hormonal treatment and had a regression in hirsutism and clitoromegaly.

Lessons:
46,XY DSD is a rare disease that the development of chromosomal, gonadal, or anatomical sex is discordant, when diagnosed 46,XY DSD, the identification of an NR5A1 variant should be considered.
Benefits of negative pressure wound therapy with fat migration during revisional total hip arthroplasty in an obese patient: A case report
Authors: Morani Zoya , Mehta Aashna , Parul Fnu , Huang Helen , Khan Mohammad Raza , Javaid Nialish , Ninan Rachael Suzanne , Wireko Andrew Awuah , Muhammed Luqman , Siddiqui Fatima Aman 
Published: January 2024

Introduction:
A 38-year-old African American woman presented with right hip pain and movement restriction. Her medical history included a right hip and knee arthroplasty 10 years prior, history of Slipped Capital Femoral Epiphysis and osteonecrosis of the hip. Preoperative assessment was significant for multiple comorbidities such as obesity (BMI > 38), hypertension, asthma.

Patient concerns:
The patient presented with right hip pain, rated 7/10, and restricted hip flexion, adduction, and abduction.

Diagnosis:
Recent imaging showed eccentric deterioration of the polyethylene lining of her prosthesis, acetabular hypertrophy on her right hip prosthesis, and chronic deformity of the pubic bone.

Interventions:
Based on these findings, a revisional total hip arthroplasty was performed. After the surgical procedure, the WoundVAC and the percutaneous drain were applied outside the tensor fascia lata to reduce seroma and hematoma formation. Postoperative pain control, antibiotics and DVT prophylaxis were given. On post-op day 3, an irrigation and debridement with delayed primary wound closure was performed under sterile conditions.

Outcomes:
On postoperative assessment, the wound demonstrated adequate healing without any signs of infection. Sutures and staples were removed 4 weeks post-op. Upon palpation there was no edema, effusions, temperature changes, tenderness. Clinical inspection revealed symmetrical alignment of the pelvis and hips. Range of motion testing revealed restriction beyond 80 degrees upon flexion and beyond 5 degrees of adduction and 10 degrees of abduction. The surgical site was noted to be healed at 6 weeks post-op. The patient continued to do well to date, without exacerbations.

Conclusion:
Obesity increases the risk of post-operative complications and wound healing failure. Therefore, Vacuum-assisted wound closure (WoundVAC), a type of negative pressure wound therapy, was applied outside the tensor fascia lata post-operatively, where the surgical incision was made. Negative pressure wound therapy facilitates wound healing by stimulating angiogenesis and promoting granulation tissue formation, which in turn can reduce the risk of surgical site infection in obese patients undergoing total hip arthroplasty. Highlighted is the mechanism of fat migration in the promotion of wound healing after preoperative weight loss and exercise.
Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report
Authors: Zhang Yumin , Yuan Yuexing 
Published: January 2024

Rationale:
17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is a recessively inherited autosomal disease caused by CYP17A1 gene mutations. It is characterized by failure to synthesize cortisol, adrenal androgens and gonadal steroids. However, it is rare in clinic combining with type 2 diabetes mellitus (T2DM).

Patient concerns:
A 21-year-old woman was transferred to an endocrinology clinic because of paroxysmal paralysis. In addition, she presented with hypertension, primary amenorrhea and lack of pubertal development. Blood evaluation revealed hypokalemia, and a low cortisol level with an increased adrenocorticotropic hormone concentration. The renin activity and testosterone and estrogen levels were suppressed, and the gonadotropin levels were high. CT scan showed bilateral adrenal hyperplasia. Besides, this patient had hyperglycemia, hyperinsulinism and negative diabetes type 1 related antibodies. A homozygous mutation c. 985 to 987delinsAA in exon 6 was found in the patient which caused the missense mutation (p.Y329fs).

Diagnoses:
17α-hydroxylase/17, 20-lyase deficiency combined with T2DM was considered.

Interventions:
The patient received dexamethasone, estradiol valerate, metformin, amlodipine besylate and D3 calcium carbonate tablets. The doses of dexamethasone was changed according to her blood potassium levels.

Outcomes:
After treatment, the blood pressure, blood potassium and blood glucose returned to normal range. Besides, she had restored her menstrual cycle.

Lessons:
For patients with hypertension, hypokalemia and lack of pubertal development, the possibility of 17OHD should be considered. The subsequent treatment would be challenging in patients with combined 17OHD and T2DM, considering the potential contribution of glucocorticoids to diabetic balance and osteoporosis.
Case report of a patient with VEXAS syndrome
Authors: Tsourveloudis Ioannis , Georgiadi Eleni C. , Vatalis Georgios , Kotsi Paraskevi 
Published: January 2024

Rationale:
Hematological malignancies have always been a challenge for scientists because there is a constant need to better define these entities. Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by ineffective hematopoiesis. Cytogenetics and molecular findings are a prerequisite for these syndromes as they confirm the clonal nature of the disease. However, MDS is often linked to autoimmunity and inflammation as part of its pathogenesis. Recently, VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) linked these two in a single mutation, suggesting that the heterogeneity among hematological malignancies often demands a more personalized medicine by tailoring medical treatment to the individual characteristics of each patient.

Patient concerns:
We present a case of VEXAS syndrome regarding a 63-year-old male patient who initially presented with episodes of low fever, polyarthritis of the knees and ankles, polymyalgia, and fatigue. His laboratory examinations revealed increased levels of serum inflammatory markers.

Diagnoses:
Diagnosis was based on high clinical suspicion, laboratory findings, and vacuolization of the erythroid and myeloid precursors in the bone marrow evaluation. Mutational status of ubiquitin-like modifier activating enzyme 1 gene was positive with a 68.8% allelomorph frequency (rs782416867).

Interventions:
Therapy was based on controlling inflammation with the use of glucocorticoids and treating MDS-related anemia with the use of erythropoietin.

Outcomes:
Currently, the patient visits our department regularly. He is still receiving the aforementioned treatment. He did not mention any new incidents for the time being.

Lessons:
VEXAS syndrome as a newly identified entity might be often underestimated since its clinical presentation is notably diverse.
The TMEM16A channel as a potential therapeutic target in vascular disease
Authors: Al-Hosni Rumaitha , Kaye Rachel , Choi Catherine Seoyoun , Tammaro Paolo 
Published: January 2024

Purpose of review
The transmembrane protein 16A (TMEM16A) Ca2+-activated Cl− channel constitutes a key depolarising mechanism in vascular smooth muscle and contractile pericytes, while in endothelial cells the channel is implicated in angiogenesis and in the response to vasoactive stimuli. Here, we offer a critical analysis of recent physiological investigations and consider the potential for targeting TMEM16A channels in vascular disease.

Recent findings
Genetic deletion or pharmacological inhibition of TMEM16A channels in vascular smooth muscle decreases artery tone and lowers systemic blood pressure in rodent models. Inhibition of TMEM16A channels in cerebral cortical pericytes protects against ischemia-induced tissue damage and improves microvascular blood flow in rodent stroke models. In endothelial cells, the TMEM16A channel plays varied roles including modulation of cell division and control of vessel tone through spread of hyperpolarisation to the smooth muscle cells. Genetic studies implicate TMEM16A channels in human disease including systemic and pulmonary hypertension, stroke and Moyamoya disease.

Summary
The TMEM16A channel regulates vascular function by controlling artery tone and capillary diameter as well as vessel formation and histology. Preclinical and clinical investigations are highlighting the potential for therapeutic exploitation of the channel in a range of maladaptive states of the (micro)circulation.
Nutritional deficiencies in alcohol use disorder/alcohol-associated liver disease
Authors: Jophlin Loretta , Liu Tzu-Yu , McClain Craig J. 
Published: January 2024

Purpose of review
To delineate common and uncommon dietary and nutritional deficiencies in individuals with chronic heavy alcohol use and alcohol use disorder and to highlight important advances in the nutrition field in patients ranging from those with alcohol use disorder (AUD) and no liver disease to those with decompensated alcohol-associated liver disease (ALD).

Recent findings
Patients with AUD may have nutritional deficiencies, especially isolated nutrient deficiencies, such as thiamine or zinc deficiencies. This should not be surprising, as alcohol is a major source of “empty calories.” It is devoid of critical macronutrients, such as protein, and micronutrients including important vitamins and minerals. Patients with AUD frequently drink much more than often appreciated (10–20 drinks a day). Patients with AUD and early ALD often begin to develop more apparent nutritional deficiencies. Healthcare providers need to be aware of the presenting features of individual nutrient deficiencies, such as thiamine deficiency, and to provide prompt treatment. In patients with more advanced liver disease, malnutrition correlates with severity of liver disease. It is important to understand the value of nutritional support throughout the spectrum of AUD.

Summary
We review nutritional deficiencies in the spectrum of patients with AUD and ALD and highlight new information and recommendations.
Micronutrient status and protein-energy malnutrition in free-living older adults: a current perspective
Authors: Alvarez-Nuncio Maria del Carmen , Ziegler Thomas R. 
Published: January 2024

Purpose of review
This review addresses the newest findings on micronutrient status and protein-energy malnutrition in the increasingly aging global population; understanding the nutritional challenges they face is vital for healthcare, well being, and public health.

Recent findings
The review examines deficiencies in macro- and micronutrients among nonhospitalized, free-living older adults, revealing significant associated health consequences, including frailty, cognitive decline, and reduced quality of life. Deficiencies in fat-soluble vitamins such as A, D, and E, are common in older populations, emphasizing the need for close monitoring for status of these. Furthermore, water-soluble vitamin deficiencies, especially vitamins B12 and C are also common, and pose health risks, including neurological disorders and cognitive decline. Iron and iodine deficiencies contribute to anemia, and neurocognitive disorders. Finally, protein-energy malnutrition is common in older adults living in high-resource countries and may occur concomitant with depletion of one or more micronutrients.

Summary
Addressing specific nutritional deficiencies is fundamental to enhancing the wellbeing and quality of life for free-living older adults. Protein-energy malnutrition, impacting over 25% of those aged 65 and above, results in a range of health issues, including poor wound healing, susceptibility to infections, anemia, and delayed convalescence. These concerns are aggravated by inadequate energy, macronutrient, and micronutrient intake, affecting muscle strength and overall health. Future research should focus on tailored appropriate monitoring of at-risk individuals, specific nutritional interventions, and dietary strategies to mitigate these issues and improve health outcomes among older adults.
A stepwise approach to the adult immunodeficiency evaluation for the rhinologist
Authors: Buckey Timothy M. , Bosso John V. 
Published: January 2024

Purpose of review
Patients with an immunodeficiency may present to their Rhinologist with a history of recurrent, severe, and chronic infections. Therefore, it is essential for the Rhinologist to have a basic understanding of clinically relevant immune deficiencies.

Recent findings
After describing different types of immunodeficiencies, their presentations, and management strategies, an evaluation algorithm is described.

Summary
Through a collaborative approach, Rhinologists and Clinical Immunologists can provide comprehensive medical care to patients with immunodeficiencies.