OpenMed/multicare-articles huggingface dataset:
Case report: Twice-daily tolvaptan dosing regimen in a challenging case of hyponatremia due to SIAD
Authors: Anna Arecco, Davide Demontis, Leonardo Della Sala, Natale Musso, Stefano Gay, Mara Boschetti, Diego Ferone, Federico Gatto
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: corpus callosum agenesis, frontal teratoma, hyponatremia, sodium, syndrome of inappropriate antidiuresis, tolvaptan, vasopressin receptor antagonists
MeSH terms: Hyponatremia / drug therapy, Hyponatremia / etiology, Inappropriate ADH Syndrome / complications, Inappropriate ADH Syndrome / drug therapy, Case Reports, Adult, Antidiuretic Hormone Receptor Antagonists / therapeutic use, Female, Humans, Sodium, Tolvaptan / therapeutic use, Tolvaptan, Antidiuretic Hormone Receptor Antagonists, Sodium

Background:
Syndrome of inappropriate antidiuresis (SIAD) is one of the most frequent causes of euvolemic hyponatremia (serum sodium levels < 135 mEq/L) and it represents more than 35% of hyponatremia cases in hospitalized patients. It is characterized by an inappropriate vasopressin (AVP)/antidiuretic hormone (ADH) secretion, which occurs independently from effective serum osmolality or circulating volume, leading to water retention via its action on type 2 vasopressin receptor in the distal renal tubules. Corpus callosum agenesis (CCA) is one of the most common congenital brain defects, which can be associated to alterations in serum sodium levels. This report presents a rare case of chronic hyponatremia associated with SIAD in a woman with CCA, whose correction of serum sodium levels only occurred following twice-daily tolvaptan administration.
Case presentation:
A 30-year-old female was admitted to our hospital for non-acute hyponatremia with dizziness, headache, distal tremors, and concentration deficits. She had profound hyponatremia (Na 121 mmol/L) with measured plasma hypo-osmolality (259 mOsm/Kg) and urinary osmolality greater than 100 mOsm/Kg (517 mOsm/Kg). She presented clinically as normovolemic. After the exclusion of other causes of normovolemic hyponatremia, such as hypothyroidism and adrenal insufficiency, a diagnosis of SIAD was established. We have ruled out paraneoplastic, inflammatory, and infectious causes, as well as ischemic events. Her medical history showed a CCA and frontal teratoma. We administered tolvaptan initially at a low dosage (15 mg once a day) with persistence of hyponatremia. Therefore, the dosage was first doubled (30 mg once a day) and then increased to 45 mg once a day with an initial improvement in serum sodium levels, although not long-lasting. We therefore tried dividing the 45 mg tolvaptan administration into two doses of 30 mg and 15 mg respectively, using an off-label treatment schedule, thus achieving long-lasting serum sodium levels in the low-normal range associated with a general clinical improvement.
Conclusions:
This report underlines the importance of the correct diagnosis, management and treatment of SIAD, as well as the need for further studies about the pharmacokinetics and pharmacodynamics of vasopressin receptor antagonists.
Composite diffuse large B-cell lymphoma and peripheral T-cell lymphoma: a case report with two-year follow-up and literature review
Authors: Jiwei Gu, Juan Qian, Xin Cao
Journal: Front Oncol (2024)
Keywords: composite lymphoma, diffuse large b cell lymphoma, intestine, peripheral t-cell lymphoma, treatment
MeSH terms: Case Reports

Composite lymphoma is an uncommon type of lymphoid malignancy, and those consisting of concurrent diffuse large B-cell lymphoma (DLBCL) and peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) in the same organ are rare. Here, we report a case of a 75-year-old male patient admitted to our emergency department with intestinal obstruction presenting with abdominal pain and vomiting. He underwent partial resection of the small intestine under general anesthesia, and subsequent histopathology confirmed the mass to be composite DLBCL and PTCL-NOS. The patient received chemotherapy with a rituximab-based regimen and achieved complete remission (CR). However, the recurrent disease presented with obstruction again ten months after treatment. He refused a second surgery, but salvage treatment was not effective. The patient survived for 20 months after diagnosis. In addition, we did a literature review to understand the clinical features, pathology, treatment, and prognosis of this type of composite lymphoma.
A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report
Authors: Shaoguang Lv, Yuanyuan Wu, Fang Liu, Baoquan Jiao
Journal: Front Pediatr (2023)
Keywords: hes7 gene, alternative splicing mutation, case report, minigene analysis, spondylocostal dysostosis 4 (scdo4)
MeSH terms: Case Reports

Background:
Spondylocostal dysostosis 4 (SCDO4) is characterized by short stature (mainly short trunk), dyspnea, brain meningocele, and spina bifida occulta, which is caused by homozygous or compound heterozygous HES7 (HES family bHLH transcription factor 7) variants. The incidence of SCDO4 remains unknown due to the extremely low number of cases. This study reveals a novel homozygous HES7 splicing variant causing SCDO4 and reviews all the previously reported HES7 variants and corresponding symptoms, providing a comprehensive overview of the phenotypes and genotypes of HES7 variants.
Case presentation:
This case report focuses on a Chinese neonate who was first hospitalized for tachypnea, cleft palate, and short trunk. After a series of auxiliary examinations, the patient was also found to have deformities of vertebrae and rib, left hydronephrosis, and patent foramen ovale. He underwent surgery for congenital hydronephrosis at 5 months old and underwent cleft palate repair when he was 1 year old. After two and half years of follow-up, the boy developed normally. A novel homozygous HES7 splicing variant (c.226+1G>A, NM_001165967.2) was identified in the proband by whole-exome sequencing and verified by Sanger sequencing. The variant was inherited from both parents and minigene assays demonstrated that this variant resulted in the retention of intron3 in the HES7 transcript. Including this case, a total of six HES7 variants and 13 patients with SCDO4 have been reported.
Conclusions:
Our findings expand the genotype-phenotype knowledge of SCDO4 and provide new evidence for genetic counseling.
Long-term, 13-year survival after immune cell therapy combined with chemotherapy for extensive-stage small-cell lung cancer: a case report
Authors: Tong Liu, Heshuang Wang, Qinglong Kong, Haoyu Wang, Haodong Wei, Pengda Sun
Journal: Front Oncol (2024)
Keywords: cd4/cd8 ratio, cik cell immunotherapy, chemotherapy, extensive-stage small-cell lung cancer (es-sclc), immune cell therapy
MeSH terms: Case Reports

While the incidence of small-cell lung cancer is low, it has a poor prognosis. Patients with extensive small-cell lung cancer account for about 70% of all cases of small-cell lung cancer, with a median overall survival duration of 8-13 months and a 5-year overall survival rate of only 1%-5%. Herein, we report small-cell lung cancer diagnosed by bronchoscopic biopsy in an adult male patient in 2011. The patient had a clinical stage of cT2N2M1 and stage IV disease (i.e., extensive small-cell lung cancer). Still, he survived for 13 years through a combination of chemotherapy, radiotherapy, and cytokine-induced killer (CIK) immunocell thera. Comprehensive tumor markers, lymphocyte subsets, and lung CT images were obtained through long-term follow-up. After 12 cycles of chemotherapy (CE/IP regimen) and 5940cgy/33f radiotherapy, we found that the patient was in an immunosuppressive state, so the patient was given CIK cell therapy combined with chemotherapy. After 2 years of immunocell-combined chemotherapy, there were no significant changes in the primary lesion or other adverse events. In the 13 years since the patient's initial diagnosis, we monitored the changes in the patient's indicators such as CEA, NSE, CD4/CD8 ratio, and CD3+CD4+ lymphocytes, suggesting that these may be the factors worth evaluating regarding the patient's immune status and the effectiveness of combination therapy. In this case, CIK cell immunotherapy combined with chemotherapy was applied to control tumor progression. With a good prognosis, we concluded that CIK cell immunotherapy combined with chemotherapy can prolong patient survival in cases of extensive small-cell lung cancer, and the advantages of combined therapy are reflected in improving the body's immune capacity and enhancing the killing effect of immune cells.
Regorafenib combined with sintilimab as second-line treatment for advanced HCC patient: a case report
Authors: Yanzhi Wan, Hong Zhu
Journal: Front Oncol (2023)
Keywords: hepatocellular carcinoma, lenvatinib, regorafenib, second-line treatment, sintilimab
MeSH terms: Case Reports

Hepatocellular carcinoma (HCC) is a tumor with a high degree of malignancy. Patients have poor outcomes and short survival times, especially after progression to first-line systemic therapy. Regorafenib is the standard second-line treatment for HCC, but there is no conclusive evidence that regorafenib combined with immunotherapy can be used as a second-line treatment. We present the case of a 50-year-old man with a chronic hepatitis B (CHB) infection for more than 30 years who was diagnosed with stage Barcelona Clinic Liver Cancer (BCLC)-B hepatocellular carcinoma. Unfortunately, recurrence and metastasis occurred soon after radical surgery and standard first-line treatment with lenvatinib. The patient was then treated with regorafenib plus sintilimab as second-line treatment. Surprisingly, soon after treatment, the patient reached a state of partial response (PR) that lasted for more than one year, which is currently close to that of complete response (CR). Regorafenib combined with sintilimab as second-line treatment showed an excellent curative effect in this patient, who had HCC with multiple metastases to the liver and lungs. This treatment, which has tolerable side effects, enabled the patient to reach a state of PR that lasted over one year, which is currently close to CR. Therefore, it may be a potential second-line treatment strategy.
Extensive Pyoderma gangrenosum following breast reduction and abdominoplasty: a challenging case
Authors: Vera Obinwanne, Nathalia Hoffmann Guarda, Erinolaoluwa Araoye, Alaina J James
Journal: Case Reports Plast Surg Hand Surg (2024)
Keywords: pyoderma gangrenosum, abdominoplasty, breast reduction surgery, mummy make over, post-surgical pyoderma gangrenosum
MeSH terms: Case Reports

Post-surgical pyoderma gangrenosum (P SP G) is a subtype of pyoderma gangrenosum in which non-infectious, painful, inflammatory ulcerative nodules develop in incision sites. Delayed diagnosis and surgical interventions of P SP G often contribute to worsened morbidity. We present a case of a 55-year-old female diagnosed with severe P SP G after breast augmentation and abdominoplasty.
Exploring the unusual: a testosterone-secreting ovarian tumor
Authors: Harpreet Kaur, Neha Singh, Sushma Bharti, Gurwinder Kaur
Journal: Autops Case Rep (2024)
Keywords: hirsutism, ovarian neoplasm, postmenopause, sex cord-gonadal stromal tumours
MeSH terms: Case Reports

Ovarian steroid cell tumors are rare, representing less than 0.1% of all ovarian neoplasms. Among the myriad causes of hirsutism, ovarian tumors account for 1% of the reported cases. We present the case of a 49-year-old parous postmenopausal woman who sought medical attention for hirsutism for 2 years. This case illustrates the unusual and interesting connection between rare ovarian pathology and the clinical manifestation of hirsutism in a postmenopausal patient. Her ultrasonography and MRI showed a right adnexal mass of solid-cystic consistency with thin septations. Her laboratory workup revealed high levels of total testosterone of 256 ng/ml (8.4-48.1ng/ml) and free testosterone of 7.36 pg/ml (0.2-4.1 pg/ml), while DHEAS - 234 µg/dl (35.4-256 µg/dl) and CA125 - 15.8U/L (0.0-35 U/L) were in the normal range. She underwent exploratory laparotomy with a total abdominal hysterectomy and oophorectomy. Histopathological examination and immunohistochemistry conclusively established the presence of a steroid cell tumor, specifically classified as "Not Otherwise Specified"(NOS), in the right ovary.
Bladder metastasis originating from gastric signet-ring cell carcinoma: a case report
Authors: Manel Moalla, Rania Hajji, Slim Charfi, Mona Boudabous, Hela Gdoura, Leila Mnif, Ali Amouri, Tahya Boudawara, Lassaad Chtourou, Nabil Tahri
Journal: Future Sci OA (2024)
Keywords: adenocarcinoma, bladder metastasis, gastric cancer, signet-ring cell carcinoma
MeSH terms: Case Reports

Bladder metastasis of gastric adenocarcinoma is a rare phenomenon. Hereby, we report a case of a 52-year-old patient who presented with upper gastro-intestinal bleeding and ascites and was diagnosed with gastric signet-ring cell carcinoma. A CT scan revealed peritoneal infiltration and anterior parietal thickening of bladder wall. Cystoscopy showed three budding lesions of the anterior wall of the bladder. He had an endoscopic resection. Histology concluded that the bladder was infiltrated by a poorly differentiated carcinoma with independent cells consistent with a gastric origin. The patient was to be treated with palliative chemotherapy.
Tailoring treatment for elderly bladder cancer: a case report of personalized management of high-grade urothelial carcinoma with papillary features
Authors: Christos G Nikolaidis, Despoina Gyriki, Charalambos Anitsakis, Elisavet Stavropoulou
Journal: Front Oncol (2024)
Keywords: bladder, cancer, elderly, management, papillary, urothelial
MeSH terms: Case Reports

This case study presents the diagnostic and therapeutic course of a 72-year-old male patient with a history of high-grade urothelial carcinoma with papillary features. The report outlines the patient's initial presentation, the intervention strategies employed, including transurethral resection and intravesical Bacillus Calmette-Guérin (BCG) therapy, the subsequent complications and clinical decisions following the intense symptoms post-treatment. The study highlights the challenges in managing bladder cancer in elderly patients, considering the tumor's characteristics, treatment responses, and the patient's quality of life.
Case Report: A "senior" with serpentine-like syndrome-treatment of combined brachyoesophagus, intrathoracic stomach and cervical rachischisis
Authors: Judith Lohmann, Anna Freund, Tobias Klein, Daniel Acero, Thomas Boemers
Journal: Front Pediatr (2024)
Keywords: asplenia, congenital diaphragmatic hernia, diaphragmatic defect, enterothorax, hiatal hernia, serpentine-like syndrome, spinal dysraphia, vertebral anomaly
MeSH terms: Case Reports

Serpentine-like syndrome, characterized by the combination of intrathoracic stomach, a notably short esophagus anomaly, splenic abnormalities, and cervical spine malformations, has been associated with a high mortality rate since its identification in 2008. This report presents the case of a remarkable patient who recently celebrated her fifth birthday, marking her as the oldest documented individual with this syndrome to date. Highlighting the significance of comprehensive evaluations for concurrent malformations, the report discusses potential treatment modalities and challenges inherent in managing patients with this intricate syndrome. A comprehensive review of previously published cases is provided, comparing surgical interventions, causes of death, and age at the time of demise. This report underscores the importance of ongoing research and collaborative efforts to optimize outcomes for individuals afflicted with serpentine-like syndrome.
A very rare case of bacteraemia in a 4-year-old girl with osteopetrosis with probable Leuconostoc lactis infection
Authors: Ali Azghar, Manal Azizi, Mohammed Lahmer, Elmostapha Benaissa, Yassine Ben Lahlou, Noufissa Benajiba, Mostafa Elouennass, Adil Maleb
Journal: Access Microbiol (2023)
Keywords: leuconostoc lactis, morocco, bacteraemia, case report, osteopetrosis
MeSH terms: Case Reports

Leuconostoc lactis (LLac) is a Gram-positive coccus of the family Leuconostocaceae . It can be found in a variety of vegetables and dairy products. LLac is an opportunistic pathogen with intrinsic resistance to vancomycin and teicoplanin. In this case report, we discuss a rare case of LLac-associated bacteraemia in a patient with osteopetrosis. A 4-year-old girl was admitted to the paediatric emergency department with acute fever without other signs. Blood culture revealed an infection with LLac. Using the streptococcus antibiogram, the isolate was resistant to vancomycin, teicoplanin, rifampicin and sulfamethoxazole-trimethoprim but sensitive to β-lactams, gentamicin, streptomycin, azithromycin, clarithromycin, lincomycin, clindamycin and erythromycin. The patient was treated with intravenous ceftriaxone and gentamicin, and subsequently with oral amoxicillin. After a favourable course, she was discharged from the hospital on the 10th day. The modes of transmission and physiopathology of LLac remain unknown. Factors associated with this infection include compromised immunity, previous antibiotic therapy especially with vancomycin, and application of a central venous catheter. In our patient, the risk factors for infection were pancytopenia and multiple transfusions used to treat bone marrow failure. The source of the bacteraemia could have been the cutaneous route, but it could also have been digestive due to the reservoir of the bacteria. LLac is known as an opportunistic bacterium. Further studies on its pathogenesis and other risk factors are needed to understand the true prevalence of this potentially fatal bacterium in compromised individuals, such as the case of our patient.
Brain tuberculoma: a 52-year-old woman case report
Authors: Gokul S Shankar, Sreeja Nair, Teena Jacob, Mercy John Idikula
Journal: Access Microbiol (2023)
Keywords: csf, mycobacterium tuberculosis, brain biopsy, liquid culture, tuberculoma
MeSH terms: Case Reports

Introduction:
One of the most serious extrapulmonary type of tuberculosis that affects people under the age of 40 is brain tuberculoma. They are space-occupying masses of granulomatous tissue that result from hematogenous spread from a distant focus of tuberculous infection by Mycobacterium tuberculosis . Symptoms and radiologic features being nonspecific usually leads to misdiagnosis and mimics a variety of other infectious diseases. Anti-tubercular drugs are essential for the successful treatment of cerebral tuberculomas.
Case report:
The authors present a case report of a 52-year-old diabetic woman, who presented to the Emergency Department of a tertiary care hospital and was diagnosed with brain tuberculomas with a brain biopsy. Brain tuberculomas are rare and could be overlooked. Therefore, this is an important consideration in cases with higher suspicions, given the rapid decline in patient condition.
Conclusion:
Due to their rarity, ambiguous symptoms, and radiographic characteristics, intracranial tuberculomas continue to provide a clinical challenge and must always be considered in the differential diagnosis of cerebral space occupying lesions. As CSF may not yield positivity for both CBNAAT and smear examination, a brain biopsy specimen for culture should always be kept in mind for detecting tuberculoma and initiating anti-tubercular treatment at the earliest.
Insulinoma Presenting With Postprandial Hypoglycemia in a Pregnant Woman With MEN-1
Authors: Anna J Wood, Vidya Kasireddy, Sridhar Chitturi, John P Walsh
Journal: JCEM Case Rep (2022)
Keywords: hypoglycemia, insulinoma, multiple endocrine neoplasia type 1 (men1), pregnancy
MeSH terms: Case Reports

Insulinomas are rare insulin-secreting tumors of pancreatic origin that cause hypoglycemia and can be associated with multiple endocrine neoplasia type 1 (MEN1). While rare, they are the most common cause of hypoglycemia related to endogenous hyperinsulinism. A 28-year-old woman with known MEN1 presented with postprandial hypoglycemia in the second trimester of pregnancy. Prior to her presentation she was known to have several pancreatic neuroendocrine tumors that had been stable on serial imaging, but no history of hypoglycemia. She was managed with dietary intervention during pregnancy and gave birth to a healthy baby at 37 weeks' gestation. After pregnancy, hypoglycemia initially resolved, but then recurred at 8 months post partum. Magnetic resonance imaging showed several pancreatic neoplasms with the largest lesion measuring 29 mm in the pancreatic tail, unchanged from previous imaging. After localization with a selective arterial calcium stimulation test, the patient underwent successful distal pancreatectomy with resolution of symptoms. This case is unusual in that her initial presentation was during pregnancy, she had predominantly postprandial rather than fasting hypoglycemia, and her symptoms remitted for several months after delivery. Key learning points are to have a low index of suspicion for an insulinoma when there is a history of MEN1 and the need for a pragmatic approach to diagnosis and treatment during pregnancy.
Sphenoid Meningoencephalocele Correction Through a Transpterygoid Approach
Authors: Fernando M Mar, José Miranda, António F Lima, Guilherme Rios, Luís Dias
Journal: Cureus (2024)
Keywords: cerebrospinal fluid leak, endoscopic endonasal surgery, skull base defect, sphenoid meningoencephalocele, transpterygoid endonasal approach
MeSH terms: Case Reports

Sphenoid meningoencephaloceles are rare, and their treatment is challenging. In this report, we describe two clinical cases of sphenoid meningoencephalocele, in which one patient presented with a cerebrospinal fluid leak after repeated head trauma, while in the other, sphenoid meningoencephalocele was detected during the study of memory impairment as the patient was otherwise asymptomatic. The CT scans showed bony dehiscence on the lateral wall of the sphenoid sinus filled with soft tissue that was confirmed by MRI as being herniated brain tissue. A transpterygoid endoscopic endonasal approach was performed with a multilayer reconstruction of the defect with success in both cases without perioperative complications. Imaging techniques are fundamental for diagnosis and surgical planning. Treatment using an endoscopic endonasal approach is efficient with very low morbidity.