OpenMed/multicare-articles huggingface dataset:
Vitamin D Deficiency Rickets and COVID-19 Pandemic
Authors: Guwani Liyanage, Yashica de Silva
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

In a breastfed infant, the main source of vitamin D comes from the mother. Thus, maternal vitamin D deficiency is the key reason for vitamin D deficiency (VDD) and rickets during infancy. As they grow older, inadequate sun exposure, diet and lack of supplements also contribute. Individuals with darker skin require at least three to five times longer exposure to the sun than a person with lighter skin to produce adequate endogenous vitamin D. Not many food items naturally contain vitamin D; most of those are less affordable to the poor. We report an 18-month-old child with vitamin D deficiency rickets during strict self-isolation measures during the coronavirus disease 2019 (COVID-19) pandemic. Prolonged periods of confining indoors, low dietary intake of vitamin D, economic distress, maternal deficiency, and nonsupplementation could have contributed to vitamin D deficiency rickets in this child. During an unprecedented pandemic of this nature, simple sun exposure and diet advice may suffice for most. This case report highlights the importance of strengthening individuals and communities with information and formulating strong public health policies to prevent vitamin D deficiency.
Multiple Dental Inclusion in Monozygotic Twins with Congenital Visual Impairment
Authors: G Galluccio, A Impellizzeri, A A De Stefano, E Serritella, E Guercio Monaco
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

The study presents two monozygotic twins (MZ) with multiple impacted teeth, affecting the upper canines and lower second molars, as well as congenital aniridia. The clinical aspect of the upper canines is peculiar because of the different positions-palatal in one and buccal in the other twin. Studies reporting different scenarios of impaction in monozygotic twins can contribute more data to the debate on tooth eruption aetiology and more so in this case because of the association with a genetic panocular disease. Patients' Concerns. The patients were referred by a general dentist, who diagnosed the presence of multiple inclusions. Diagnostic Study. Both patients showed severe malocclusion, classified as grade 5 of the Index of Orthodontic Treatment Need (IOTN). The MZ showed class I malocclusion, upper and lower crowding, and impacted lower right and left second molars. A Dentascan was prescribed for the canine impaction. The impaction of the upper canine was palatal of 2.3 in one of the MZ and buccal of 1.3 in the other one. The same altered pattern of eruption of the lower second molars was identified in both twins. The proposed treatment plan contemplated orthodontic surgical recovery of the impacted elements, followed by orthodontic treatment with multibracket appliance after the extraction of the first four premolars, given the crowding entity. The use of a retraction spring action was chosen for the recovery of the lower second molars. Many aspects of the possible genetic aetiology of tooth impaction are still under discussion. The study of diseases in twins offers decisive information. Finally, the possibility that alterations in the eruptive pattern of the dental elements may be associated with other congenital problems broadens the range of investigations related to the possible aetiological causes of the inclusions in humans.
Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report
Authors: Hongyan Lv, Baojun Qiao, Liyuan Fang, Lihong Yang, Qiuli Wang, Sujing Wu, Pengshun Ren, Lianxiang Li
Journal: Hereditas (2019)
Keywords: crohn’s disease, genetic mutation, inflammatory bowel disease, interleukin-10 receptor a, neonate, oral ulcer
MeSH terms: Crohn Disease / complications, Crohn Disease / genetics, Heterozygote, Interleukin-10 Receptor alpha Subunit / genetics, Mutation, Oral Ulcer / complications, Oral Ulcer / diagnosis, Case Reports, Alleles, Disease Susceptibility, Exons, Female, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Infant, Newborn, Phenotype, Interleukin-10 Receptor alpha Subunit

Objective:
To investigate the clinical and genetic characteristics of neonatal Crohn's disease (CD), improve recognition of neonatal CD, and reduce the number of patients that are missed or misdiagnosed.
Methods:
A 10-day-old Chinese girl with oral ulcers was admitted to the Department of Neonatology. She later developed a rash and perianal disease, but without diarrhea and stool abnormalities. The patient and her parents underwent next-generation sequencing.
Results:
The results showed that the patient carries a compound heterozygous mutation in the interleukin-10 receptor A (IL-10RA) (NM_001558.3) gene. One heterozygous mutation was c.301 c > T, P. (Arg 101 Trp) in exon 3 of IL-10RA (a missense mutation), and the other was c. 537G > A, P. (Thr 179 =) in exon 4 of IL 10RA (a synonymous mutation). The patient's father also carries the c.301 c > T, P. (Arg 101 Trp) heterozygous mutation in exon 3 of IL-10RA, whereas her mother carries the c.537G > A, P. (Thr 179 =) heterozygous mutation in exon 4 of IL-10RA.
Conclusions:
The results show that a compound heterozygous mutation in IL-10RA is associated with neonatal CD. Oral ulcers with a rash and perianal disease may be an early symptom of neonatal CD; therefore, such patients should undergo genetic identification as soon as possible.
Physical activity and the brain myelin content in humans
Authors: Mariusz J Kujawa, Anna B Marcinkowska, Małgorzata Grzywińska, Monika Waśkow, Alexander Romanowski, Edyta Szurowska, Paweł J Winklewski, Arkadiusz Szarmach
Journal: Front Cell Neurosci (2023)
Keywords: human brain, magnetic resonance imaging (mri), myelin, myelination and remyelination, physical activity
MeSH terms: Review

New imaging sequences and biophysical models allow adopting magnetic resonance imaging (MRI) for in vivo myelin mapping in humans. Understanding myelination and remyelination processes in the brain is fundamental from the perspective of proper design of physical exercise and rehabilitation schemes that aim to slow down demyelination in the aging population and to induce remyelination in patients with neurodegenerative diseases. Therefore, in this review we strive to provide a state-of-the art summary of the existing MRI studies in humans focused on the effects of physical activity on myelination/remyelination. We present and discuss four cross-sectional and four longitudinal studies and one case report. Physical activity and an active lifestyle have a beneficial effect on the myelin content in humans. Myelin expansion can be induced in humans throughout the entire lifespan by intensive aerobic exercise. Additional research is needed to determine (1) what exercise intensity (and cognitive novelty, which is embedded in the exercise scheme) is the most beneficial for patients with neurodegenerative diseases, (2) the relationship between cardiorespiratory fitness and myelination, and (3) how exercise-induced myelination affect cognitive abilities.
Hybrid treatment for lower limb revascularization in a patient with vascular graft infection: a case report
Authors: Eduardo Lichtenfels, Nilon Erling, Newton Roesch Aerts, Andre Silvestri Reitz da Costa
Journal: J Vasc Bras (2022)
Keywords: endovascular procedures, limb salvage, prosthesis-related infection
MeSH terms: Case Reports

Patients with severe arterial obstructive disease and critical limb ischemia associated with vascular graft infection have elevated morbidity and mortality rates and are at high risk of limb loss. We present the case of a 76-year-old male patient with left lower limb critical ischemia and a femoropopliteal vascular graft infection. We used a hybrid treatment approach with an open surgical approach to the inguinal and popliteal regions and used the vascular prosthesis as endovascular access for direct recanalization of the superficial femoral artery, because the long occlusion and extensive calcification had frustrated initial attempts at endovascular treatment. After endovascular recanalization, the infected graft was removed. Used in conjunction with open surgery, advances in endovascular techniques and materials offer new solutions for patients when usual procedures fail.
Case report: A comatose patient with pregabalin overdose successfully treated with continuous renal replacement therapy
Authors: Visti Torbjørn Nielsen, Nelun Wijayasinghe, Lotte Christine Groth Høgberg, Søren Bøgevig
Journal: Front Med (Lausanne) (2023)
Keywords: coma, continuous renal replacement therapy, intensive care medicine, pregabalin overdose, toxicology
MeSH terms: Case Reports

Pregabalin (PB) overdose causes mild symptoms and coma is rarely seen unless the patient has also ingested sedatives and/or has preexisting renal disease. We present a case report of a suicide attempt with PB where the patient presented in a comatose state that was successfully treated with continuous renal replacement therapy (CRRT). Treatment of PB overdose is usually supportive. However, previous reports of PB overdose have been treated with intermittent hemodialysis (IHD) in patients with preexisting renal disease. The problem with IHD is that it is only available in specialist centers and unsuitable for unstable patients. In the following case report, the patient presented to the emergency department (ED) unconscious and hypotensive. It was thought that the patient tried to commit suicide by taking an overdose of zopiclone tablets, as empty packets of zopiclone tablets were found beside the patient. There was no effect with flumazenil treatment, so the patient was intubated, mechanically ventilated, and admitted to the intensive care unit (ICU) where inotropic support was started. Despite supportive therapy, there was no improvement in the patient's condition. Further investigation into the patient's medical records uncovered prescriptions of PB. Based on this finding, plasma PB levels were measured and found to be 20 times the upper limit of the therapeutic reference range. CRRT was instituted and after 6 h of treatment the patient woke up. Hospitals with ICUs often have CRRT available in their units whereas IHD is less readily available. This case report demonstrates that CRRT is an effective method for treating PB overdose in an unconscious unstable patient that was unsuitable for transfer to another hospital.
Case report: Improved behavioral and psychiatric symptoms with repetitive transcranial magnetic stimulation at the bilateral DLPFC combined with cognitive and behavioral therapy in a patient with unilateral thalamic hemorrhage
Authors: Hye Chan Ahn, Kyoung Tae Kim
Journal: Front Neurol (2022)
Keywords: cognitive-behavioral therapy, dorsolateral prefrontal cortex, intervention, repetitive transcranial magnetic stimulation, thalamic stroke
MeSH terms: Case Reports

Behavioral and psychological symptoms are not uncommon after thalamic stroke, and are often intractable despite medication and behavioral interventions. Repetitive transcranial magnetic stimulation (rTMS) is as an adjunctive therapeutic tool for neuropsychiatric diseases, and bilateral rTMS has been recently introduced to maximize the therapeutic effect. Herein, we report the case details of a patient with unilateral left thalamic hemorrhage without cortical lesions who had treatment-resistant neuropsychiatric symptoms. We hypothesized that bilateral rTMS targeting the bilateral dorsolateral prefrontal cortices (DLPFCs) would positively affect thalamocortical neural connections and result in neuropsychiatric symptom improvement. The patient received a total of 10 sessions of bilateral rTMS over 2 weeks, applied at the DLPFCs, with high frequency in the left hemisphere and low frequency in the right hemisphere. After each rTMS treatment, computer-based cognitive-behavioral therapy was administered for 30 min. Behavioral and psychological symptoms, including hallucinations, aggressiveness, aberrant motor activity, disinhibition, and abrupt emotional changes, were significantly improved as assessed by the Neuropsychiatric Inventory Questionnaire. These effects persisted for up to 1 month. This case demonstrates the clinical potential of bilateral rTMS treatment in patients with intractable neurocognitive impairment after thalamic stroke.
Unilateral Renal Tumor Cryoablation and Contralateral Radical Nephrectomy of Bilateral Renal Tumors by Transumbilical 3D Multichannel Laparoendoscopic Single-Site Surgery
Authors: Guopeng Yu, Ke Zhang, Wenzhi Li, Long Li, Yanliang Zhao, Yiwei Wang, Mingxi Xu, Jun Da, Guoqin Dong, Zhong Wang, Bin Xu
Journal: J Endourol Case Rep (2018)
Keywords: less, bilateral kidney tumors, cryoablation, transumbilical
MeSH terms: Case Reports

Background: Unilateral renal tumor cryoablation and contralateral radical nephrectomy of bilateral renal tumors were performed by transumbilical three-dimensional (3D) multichannel laparoendoscopic single-site (LESS) surgery, in an attempt to verify the feasibility and safety of the procedure, sum up the operational experience, and evaluate the surgical outcome. Case Presentation: This was a 47-year-old female patient with a body mass index of 27.34 kg/m2 without backache, low back pain, hematuria, urinary urgency, frequent urination, dysuria, and other symptoms. Contrast-enhanced CT scan of the kidney on admission showed four masses in the left kidney and two masses in the right kidney. Preoperative serum creatinine (SCr) was 87 μmol/L. Operation was performed under general anesthesia by first laying the patient in a left lateral position. A 2-cm longitudinal transumbilical skin incision was made to expose the right kidney for complete dissection of the two tumors. First, puncture biopsy was performed, and then two freeze-thaw cryoablation cycles for the two tumors were performed. At last, the patient was laid in a right lateral position for radical nephrectomy of the left kidney. The operative duration, cryoablation time, and estimated blood loss were 200 minutes, 40 minutes, and 100 mL, respectively. Postoperative pathological examination revealed clear-cell renal cell carcinoma. The right glomerular filtration rate tested was 42.36 mL/minute and SCr was 131 μmol/L at day 5 after surgery. There was no evidence of contrast enhancement at the cryoablative region as shown by renal contrasted CT scan performed 4 days after surgery and renal contrasted MRI scan performed 6 weeks after surgery, indicating that there was no tumor remnant or recurrence. Conclusion: Our preliminary experience shows that the treatment of bilateral renal tumors with unilateral renal tumor cryoablation and contralateral radical nephrectomy by transumbilical 3D LESS is safe, feasible, and effective. It may prove to be a viable option for patients with significant comorbidities and an insensitive treatment intention.
Isolated Rare Urethral Metastasis From Primary Lung Adenocarcinoma: Case Report and Literature Review
Authors: Xin Zhu, Heqiu Li, Shuang Li, Mi Zhou
Journal: Front Oncol (2019)
Keywords: case report, literature review, lung adenocarcinoma, metastasis, urethra
MeSH terms: Case Reports

Background: Lung adenocarcinoma is a common respiratory malignancy, however urethral metastasis of lung adenocarcinoma has not yet been reported. This study aims to present a rare case of isolated urethral metastasis in a male patient with a history of primary lung adenocarcinoma. Case Presentation: A 69 year-old male patient was admitted complaining of dysuria and nocturia for 3 months, with a history of lung adenocarcinoma after surgery. The patient was diagnosed as benign prostatic hyperplasia (BPH) and received holmium laser enucleation of the prostate, an effective transurethral procedure to treat bladder outflow obstruction due to BPH. Four months after surgery for BPH, the patient had no improvement in symptoms and continued to complain of dysuria and perineum pain. An MRI of the pelvis indicated posterior urethral mass without any regional lymphadenopathy or other sites of lesion. Urethrocystoscopy found the mass in the membranous urethra near the verumontanum, and pathology combined with immunohistochemical staining confirmed the isolated urethral metastasis of lung adenocarcinoma. The further therapeutic regimen consisting of chemotherapy (pemetrexed combined with nedaplatin) and bevacizumab was well-tolerated, and obviously relieved the patient from dysuria and perineum pain. Conclusion: This study reported the first case of isolated rare urethral metastasis from primary lung adenocarcinoma and underlined the necessity for clinicians to remain vigilant to metastasis during follow-up of primary cancer.
Gout With Associated Cutaneous AA Amyloidosis: A Case Report and Review of the Literature
Authors: G E Orchard
Journal: Br J Biomed Sci (2023)
Keywords: aa (secondary) amyloidosis, amyloid, chronic inflammation, gout, urate crystals
MeSH terms: Amyloidosis / complications, Amyloidosis / diagnosis, Gout / complications, Gout / diagnosis, Gout / drug therapy, Skin Diseases, Genetic, Review, Case Reports, Aged, Humans, Male, AA amyloidosis, Amyloidosis, Primary Cutaneous

Gout with associated AA amyloidosis is an unusual finding. This form of amyloid is associated with chronic inflammatory changes often associated with amyloid deposits in the urine, as well as tissue involvement, and organ enlargement in some cases. The large majority of cases in the literature to date refer to gout with AA amyloid within the kidney. However, this is not exclusive, with reports in the liver, gastrointestinal tract, adrenal glands rectum, skin, and subcutaneous fat. The pathophysiological association between these two disease processes is open to debate. The employment of specific anti-inflammatory treatments is believed to have an impact on reducing the incidence of AA amyloidosis in some gout cases-notably the use of colchicine in cases of clinically defined gout attacks. However, this is by no means a universal finding. Here we report on a cutaneous case of gout with AA amyloidosis in a 73-year-old man Included in this case study is a review of the other 16 cases reported within the literature in an attempt to clarify the associated pathophysiological process between these two diseases and the anti-inflammatory treatment regimens employed which may impact the occurrence of AA amyloidosis.
Case report: Ultrasound-guided percutaneous drainage combined with lavage using urokinase: An economical and effective treatment for muscular hematomas in hemophiliacs
Authors: Hao Liu, Cong Xu, Weizhen Wang, Bin Chen, Jing Sun, Xiaoqin Feng, Yaru Zhang, Fei Ma, Lingli Du, Yang Gao, Yingjia Li
Journal: Front Surg (2023)
Keywords: hematoma, hemophilia, interventional ultrasonography, percutaneous drainage, urokinase
MeSH terms: Case Reports

This was an initial effort to treat hemophiliac hematoma by ultrasound-guided intratumoral drainage and lavage with urokinase after adequate supplementation of coagulation factors. Two patients with severe hemophilia underwent ultrasound-guided percutaneous drainage in combination with lavage using urokinase. After 5-day and 3-day treatments, respectively, intramuscular hematomas in both patients disappeared, compression symptom was relieved, and no obvious adverse reactions or serious complications were observed during the treatment or follow-up. These findings suggest that ultrasound-guided drainage combined with lavage using urokinase is an immediate, safe, effective, and minimally invasive treatment for intramuscular hematomas in hemophiliacs, avoiding potential complications by surgical resection with relatively low treatment cost.
Case Report: Isolated Cystic Dilatation of the Cystic Duct: A Misdiagnosed Case Preoperatively
Authors: Jiankang Zhang, Zeming Hu, Xuan Lin, Dongliang Zhang, Hao Wang, Bin Chen
Journal: Front Surg (2021)
Keywords: case report, choledochal cyst, cystic duct cyst, isolated cystic duct dilation, surgical treatment
MeSH terms: Case Reports

A 33-year-old female with a mild elevation of liver transaminase was sent to the general surgery department for medical services due to upper-right abdominal pain for 2 weeks. A liquid dark area ~4 × 3 × 3 cm in size in the theoretical location of the pancreatic segment of the common bile duct was detected by abdominal CT with no enhancement of the cystic wall found in the enhanced CT scan. The patient was then diagnosed with a choledochal cyst based on the results of the radiological images preoperatively. During the operation, the isolated cystic dilatation was found in the middle part of the cystic duct, and its caudal portion was found behind the head of the pancreas and converged into the common bile duct at an acute angle and low insertion. According to the intraoperative evaluation, the female was then diagnosed with a cystic duct cyst (CDC). The surgery was converted to a laparotomy for the unclear structure and the possibility of anatomic variation of the bile duct. The caudal portion of the cystic duct was found communicated with the common bile duct with a narrow base, and the extrahepatic bile duct was not cystic. The CDC was removed in the surgery. One week later, the patient was discharged from the hospital for the disappearance of abdominal pain and normal liver transaminase and did not report any discomfort in the 1-month-long follow-up. The lessons drawn from this case were as follows: (1) the distinction between the relatively frequent choledochal cyst and the isolated CDC should always be taken in mind; (2) a surgical strategy should be given priority for an intraoperatively confirmed CDC; (3) a common bile duct exploration is recommended for patients with choledocholithiasis or jaundice.